Saturday, 22 July 2017

AGM2017: Overview of Genetics Service - Dr Nicola Cooper

Dr Cooper gave an overview of the genetics service offered at Birmingham Women's and Children's Hospital, although much of what she said is good relevant information. She began outlining that one in 17 of the population are likely to have a rare condition in their lifetime, and genetic testing can help to identify the cause and progression of such diseases.

There are four main aspects of the care that they give:
1) Giving information on what genetic testing is - how it can (with a definitive result) be used to guide treatment and give an assessment on potential outlooks on life, and can give information on if things are/can be passed to children and the level of risks for different aspects and provide information for the family.

2) Outlining the different choices available - there are tests for individuals, and tests can be done on children and during pregnancy.

3) Providing support for the while family - the results of a test can affect more than just the person being tested.

4) Help families make the choices that are right for them.

In the wider sense diagnoses can be made in a number of different ways. The persons family tree can be examined, there can be a number of physical examinations or investigations, and sometimes there is a genetic test available.

There are three types of genetic inheritance, and there are examples in HSP of all three types. Each gene that person has is a pair of genes, one from their father and one from their mother.

If a condition is 'dominant' then the gene for that condition needs only to be in one of those pairs for the person to have that condition. (SPG4 has dominant inheritance). With dominant conditions there are no skipped generation and each child has a 50/50 chance of inheriting from their affected parent.

If a condition is recessive, then the person needs to have inherited the gene from both parents. (SPG11 has recessive inheritance). If a person has one copy of the recessive gene then they are a 'carrier' of the condition but are not affected by it. Recessive conditions can skip generations as people can be carriers. If both parents are carriers then the chance of a child being affected by the condition is 1 in 4.

Lastly X-linked inheritance where the gene for the condition is on the X chromosome. These generally affects males as they only have one copy of the X gene, being XY). Females are XX, and are usually unaffected by the condition but can carry it. (SPG1 has X-linked inheritance).

Further to inheriting genes from our parents there will also be some genetic changes within us. Dr Cooper said that each person has around 60 genetic changes which are not in either parent. Such changes could lead to HSP with any form of inheritance.

Dr Cooper then went on to talk about diagnostic testing. This can be used for a person affected by a condition. The testing can firstly identify what the condition is, and then hat type it is. Predictive testing can similarly be undertaken for unaffected relatives. Having a test can help with planning, career choices, life decisions and that kind of thing.

With predictive testing there will always be  a look at personal history. This will help understand the personal circumstances for the person and level of support that they would have. One of the biggest factors is that having a test changes perspectives - you move from "might have" a condition to "will have" a condition. Part of the personal history is getting a feel for how this might affect someone psychologically. Having a result can be beneficial in terms of planning for the future, but could also have a disadvantage in that you may have to declare that you have a condition when applying for a mortgage, for example. She noted that a clinical examination is always a snapshot of a person, it cannot tell you how you will be in the future.

Dr Cooper described two different types of genetic testing. Until relatively recently genetic tests were done using "Sanger Sequencing" which looks at one gene at a time. Now such test are done with New Generation Sequencing (NGS), where a panel of different genes are looked at simultaneously. Gene panels tend to have ~40 different genes in them.

One issue with panel tests is that interpeting the results can be difficult to do. Some of the results back are not clear. Other results may come back showing changes, but it is not always clear that those changes are giving rise to the effects being observed. Some people are affected by more than one rare condition, and it may be difficult to identify what is going on from panel test result, especially if some of those conditions are similar. The age of onset and rate of progression of HSP have influences from other factors. Some of these factors will be genetic and others will be environmental.

Dr Cooper described genetic changes as being like a key. The genetic change can happen at any place in the gene and the effect of the change depends on where it happens. If we liken a gene to a key, then if the change occurs in the part of the key which you hold then the key will still open the lock perfectly. Some change may be small, and that might be like a slightly wrong key which you can get to open the lock by giving it a bit of a wiggle - and that all might be OK. When the change is bigger or occurs in the blade of the key then the lock may not be operable with that key.

If you are in the UK and do not have a genetic test result for HSP then you may be eligible for the 100,000 Genome Project. Talk to your neurologist!

 

Thursday, 6 July 2017

Chair of UK HSP Support Group

At the weekend I went to the UK HSP Support Group AGM in Birmingham. This means that I've my next few posts covered with reporting the different presentations that were made there.

The AGM was at a new venue this year, and I think that it worked really well, meeting the needs of the group. The turnout was great with nearly 100 people there, so getting on for a fair proportion of the membership. The AGM followed the usual format with a number of speakers (4 this time) and some time for members to chat amongst themselves, over lunch and between talks.

At the AGM Ian Bennett stood down as Chair of the group, and in discussions with Ian over previous months I had put myself forward as Chair. There were no other people who put themselves forward, so I was elected as the new Chair of the group. I'm just getting my head round my new role and responsibilities at the moment, but I'm intending to follow Ian's excellent work, and my initial aims for the group are:

  • Promote the groups activities, 
  • Listen to ideas from members,
  • Follow the groups our charitable objectives

If anyone has any ideas about what the group should be doing, I'm happy for people to post here, drop me a message or leave a comment on our faceboook group (https://www.facebook.com/groups/19469684343/) or page (https://www.facebook.com/hspgroup.org/)

Tuesday, 27 June 2017

The 2017 Potato Pants Festival

Its only a few days to go till the 2017 HSP Support Group AGM, which is on Sat 1st July. You can see details of that here: http://hspgroup.org/index.php/meetings/68-saturday-1st-july-2017-annual-general-meeting-tally-ho-conference-banqueting-centre-pershore-road-birmingham-b5-7rn

This post is, however, about the 2017 Potato Pants Festival, which was on Sat 3rd June. I went there with my family, and it was really good fun. Actually I was there with my extended family as the festival was in the area where my wife's family live, so actually there were a fair few of us there.

The event was organised by Ian Bennett, chair of the Support Group, following various conversations he'd had with others about this. 2017 was the second year of the festival, and it felt like a well organised friendly affair. My kids spent most of the afternoon on the bouncy castles, whilst the rest of us sat on the grass listening to the music and having a good look around. The bands were playing in a big tent and there were plenty of people listening and then dancing.

During the changeover between the bands there were the now infamous potato pants races, where up to six people put on specially made trousers, loaded up with 10 potatoes down each leg. The race was a simple "run to that crate and back again" race, so a distance of about 50m. Why? The concept comes from a discussion Lori Renna Linton had with her daughter. You can watch her story in one of the links below. This conversation set off a chain of activities, and the potato pants festival is a descendant of this idea!

At the festival there were also a few stalls selling things, a bar, an ice cream stall, a hot dog/burger outlet, a few other games and events for people to take part in, and people were also free to roam around the farm.

I thought that the event was great. The music was really good, all the people were really friendly, and its a really nice way of raising awareness about HSP.

Of course, its not just about the fun, the event was to raise money, so there were lots of volunteers helping on the day, and I hope to find out at the AGM how much was raised for the charity. I'm looking forward to next year!

Some links about the festival:
Review 1: http://www.gigsandbands.com/potato-pants-festival-2017-review/ (with loads of pics)
Music 1: https://www.youtube.com/watch?v=cEHhorCYeM8&t=16s
Music 2: https://www.youtube.com/watch?v=-LH187HkZIc&t=1s

The original potato pants story: https://www.youtube.com/watch?v=56XdjtrpZlo&amp
Where else the idea is going: https://www.youtube.com/watch?v=ppJcPnPlpu0

 


Wednesday, 7 June 2017

Report: Juggling care and daily life

I take part in rare barometer voices surveys (http://www.eurordis.org/voices#studies). Recently the questionnaire was about balancing the different aspects of life with a rare disease. You can read the full report here: http://download.eurordis.org.s3.amazonaws.com/rbv/2017_05_09_Social%20survey%20leaflet%20final.pdf

Over 3000 people from across Europe responded to the survey, with a range of rare conditions, so the results are not HSP specific. My key takeaway points are:


Issues with daily activities:


  • More than 70% consider that they have difficulty with daily activities and tasks and that the disease impacts their motor and sensorial functioning;
  • More than 50% mention that their social life and their ability to cope with personal care activities is impacted by the disease, as well as their ability to control general behaviour and to take care of their finances;
  • More than 40% also have difficulty with understanding, learning and communicating with others.

Impact on daily life:

  • 85% of respondents says that the disease impacts upon several aspects of the health and everyday life
  • 42% spend more than 2 hours a day on care-related tasks.
  • A significant percentage of carers are providing intense caring: 30% spend more than 6 hours a day helping the patient

Rare disease information:

  • 75% of respondents declare that; finding necessary information on the disease, finding the right professionals, arranging and attending appointments with different service providers, and travelling to and from appointments, is time-consuming, and 64% of respondents consider that it is difficult to manage.
  • 75% of respondents consider that the level of knowledge among social workers, teachers and care givers is deficient because the diseases are rare and the situations very specific and complex.  Professionals do not seem sensitised to general issues that surround rare diseases, such as the difficulty to get a diagnosis or the number of care providers that can be involved in the management of a single disease.


Employment:

  • 46% of People affected by a rare disease remain employed - working whilst caring or when affected by a rare disease represents a major challenge. 
  • 76% of the respondents declare that the fact they are affected by a rare disease has limited their professional choices; 67% also declare that the disease has limited them in being promoted.

Social impacts:

  • 54% declare that isolation from friends and family was caused or amplified by the rare disease.
  • More than half of the participants (52%) report that the disease triggered tensions between family members. 
  • In contrast, 45% declare that the rare disease has strengthened the family unit.
  • 37% of the respondents declare that they feel often (19%) or very often (18%) unhappy and depressed, compare to 11% of the general population.
 

Friday, 12 May 2017

Shoe wear update - data!

I've just, in the last month or so got both new trainers and new shoes, which means that I now have my first set of shoe wear data, co-incidentally two pairs at the same time.

My shoes lasted 2 years 2 months From Oct-2014 through to Dec-2016 (they were basically worn out by Christmas 2016, but I dragged another couple of months use out of them, getting the new pair in April 2017).

My trainers lasted about a year less, one year and three months from Jan 2016 through to April 2017 (with the new pair in May 2017).

In both cases, you can see that my left shoe is substantially more worn than my right shoe. (of course, we're looking at them from your perspective, so my left shoe appears on the right of the photo!)

Shoes:















The main problem for my shoes (which is not too surprising) is that they let water in when the ground was wet.

Trainers















The main problem for my trainers is that the sole on the left shoe was becoming unstuck, and would occasionally fold back under the shoe if my foot passed close to the ground. You can see that the soles of my trainers are considerably more worn that the soles of my shoes, and this is because I wear my trainers whilst riding my bike.

I was more dissappointed with the rate of wear on my Diadora trainers than with the wear on my shoes. Clearly the bike wears them out quite quickly, and whilst I didnt perceive wearing the trainers much other than for cycling, the wear on the tips suggests that this is not the case! I've gone cheap for my next pair, with Boston Athletics.

I think that my shoes (which were Sketchers) fared much better - these are the shoes that get most of the wear and tear, and I've worn out and about in most environments (woods, trees, rocks, beaches, . My replacement shoes are also Sketchers.

The only shoes that have not yet entered the logging system are the shoes that I wear at work - I have two pairs of those and they aren't going anywhere soon. I also have two pairs of boots for walking, but they get used once in a blue moon and would feature here way after my work shoes.

Sunday, 7 May 2017

HSP affecting Quality of Life

Study of HSP
I found a research paper from 2016 which looks at the differences between people with HSP and a control population to evaluate the burden of HSP. The study was undertaken in Norway, comparing 108 people over 30 yrs old with HSP against an age and gender matched sample from a study of 46 thousand people. 

The paper is called “Health survey of adults with hereditary spastic paraparesis compared to population study controls”, by Krister W. Fjermestad, Øivind J. Kanavin, Eva E. Næss, Lise B. Hoxmark and Grete Hummelvoll. You can read the full paper here: https://ojrd.biomedcentral.com/articles/10.1186/s13023-016-0469-0. I've taken my highlights from the paper and repeated below.

The study is a broad survey of health and everyday life domains among persons with HSP, including life satisfaction, mental wellbeing, social support, problems with sleep, memory, pain, gastrointestinal/urinary functioning, and ability to perform activities of daily living (ADL). 

The HSP sample more frequently lived alone. Overall, the HSP sample reported lower life satisfaction, lower mental wellbeing and lower social support, as well as poorer memory and sleep, compared to controls. Furthermore, the HSP sample more frequently reported musculoskeletal pain, constipation, and urinary incontinence compared to controls. There was no difference between samples in frequency of physical activity and alcohol and tobacco use. Men with HSP reported higher impact of HSP, lower life satisfaction, and less ability to perform activities of daily living compared to women with HSP.

Adults with HSP experience disease burden on a larger number of areas than previously documented, and men with HSP may represent a particularly vulnerable group.

Results

All of the comparisons in this section are with the control sample.

Participants in the HSP sample less frequently lived with a partner/spouse and more frequently lived alone. There was no difference between the samples in frequency of living with parents or children.

Sleep
Study considers daytime drowsiness, frequent night awakenings, trouble falling asleep and waking up early. People with HSP reported more sleep problems on all items

Pain
Study considers chronic pain of >3 months duration in the past year. The most frequent pain sites are: feet, knees, lower back, and hips. People with HSP confirmed more frequent musculoskeletal pain, more frequent pain in the lower body pain sites and less frequent pain in the upper body pain sites.

Comorbid disease prevalence
The most frequently reported diseases were mental health problems, osteoarthritis, hand eczema, psoriasis, asthma and brain hemorrhage. People with HSP more frequently reported brain hemorrhage and psoriasis.

Gastrointestinal problems
The study considered constipation, alternating constipation and diarrhea, bloating,  heartburn, diarrhea, nausea and fecal incontinence. People with HSP more frequently reported much problems on alternating constipation and diarrhea, constipation and fecal incontinence.

Urinary problems
The study considered urinary incontinence. People with HSP more frequently reported urinary incontinence 

Oral health
There was no difference in oral health but people with HSP reported more frequent dental visits during the last year compared to controls.

Physical activity
Study considered the frequency of physical activity (daily, 2–3 times pr. week, once a week, less than once a week and never). There is no difference in frequency. Those with HSP spent more hours sitting daily compared to controls.

Medication use
The study considers the percentage of participants taking nonprescription medicines 1–3 times weekly: for general pain, constipation, headache and heartburn. People with HSP more frequently reported taking medication for constipation and general pain. Otherwise no difference.

Alcohol and tobacco use
There was no difference for participants drinking alcohol at least 2–3 times pr. week, never drinking alcohol and smoking daily.

Social support
The study looked at the percentage of participants who confirmed practical support and emotional support. those with HSP reported lower practical support and emotional support.

Mobility and activities of daily living
In terms of mobility, 35 % reported to walk without aids outdoors, while 56 % reported to walk without aids indoors. Around a third (31 %) reported to use a wheelchair indoors, while 45 % reported to use a wheelchair outdoors. The majority (80 %) confirmed having a driver’s license. 

Men reported more activities they could not perform without assistance compared to women. Fisher’s exact tests showed that the two activities men reported to be able to perform less frequently compared to women were simple household chores and laundry.

Frequency of falling
In the HSP sample, 47 % reported to have fallen in the last 3 months. There was no gender difference in frequency of falling and no significant age difference between those who confirmed having fallen and those who did not.

HSP sample medication use
In the HSP sample, 15 % reported using Botox injections, 10 % reported using a baclofen pump, and 33 % reported taking oral spasmolytics. Of these, the percentages of participants reporting having some or large effect of the medication were 83 % for Botox, 86 % for baclofen pump, and 82 % for oral spasmolytics.

Gender differences within the HSP sample
There were no significant gender differences on any of the variables shown in Table 2, except overall life satisfaction. Males rated significantly lower life satisfaction compared to females

Pure versus complex HSP
There was no difference between the proxy pure/complex types in terms of age, total body impact, pain, mental well-being, memory, gastrointestinal/urinary problems, number of additional diseases, BMI, or physical activity.

Discussion

Compared to controls, persons with HSP reported lower scores on life satisfaction, mental wellbeing, as well as perceived practical and emotional support. Furthermore, compared to controls, persons with HSP reported more problems with memory, sleep, gastrointestinal and urinary function, and pain in the lower body. The results showed persons with HSP experience large total physical impact of their disorder. This total impact was significantly correlated with age, mental wellbeing, memory problems, gastrointestinal problems, extent of pain, number of co-morbid diseases, and life satisfaction. Thus, the disease burden for adults with HSP is multifaceted, and involves problem areas not previously documented.

Our results also showed considerable impact on activities of daily living for persons with HSP. Over half the sample reported not being able to take the bus, and nearly half the sample reported not being able to do more than basic house chores. They were surprised to find that age was only correlated with total physical impact and ability to perform ADL, and not with any other health-related variable. This implies that the burden of disease experienced by adults with HSP is considerable across the lifespan. Importantly, older participants reported less practical support compared to younger participants, possibly indicating a particular need for the older HSP group.


There are some important gender differences within the HSP sample. Specifically, men reported significantly higher overall impact of HSP, higher impact on sexual function, more ADL they could not perform without assistance, and lower overall life satisfaction compared to women with HSP. In summary, the results indicate that men with HSP represent a particularly vulnerable group in terms of overall HSP impact and quality of life.

Saturday, 29 April 2017

HSP Falls Study Participation

Here is another HSP research study that you can take part in.

Researchers at Plymouth University (in the UK) are studying more about how many people with HSP fall and what causes the fall. Understanding more about falls will help to raise the awareness of the condition with other healthcare professionals, determine what interventions may be useful and drive future research.

There is an initial questionnaire gathering information about participants and any falls that they may have had in the last three months. The second part of the study records any falls over a three month period. The study is titled "Falls in Hereditary Spastic Paraparesis: An Observational study of falls characteristics and predictors of falls and long lies" They define a long lie as when someone is unable to get up off the floor for an hour or more.

The study aims to survey as many people with Hereditary Spastic Paraparesis whether or not they commonly fall. It aims to identify how frequently people with Hereditary Spastic Paraparesis fall and to describe the characteristics of falls such as where people fall and what were they doing at the time. The survey will also assess whether there is a relationship between people’s reported symptoms, such as weakness, muscle stiffness and fatigue and the presence or absence of falls.

You can take part in the study if you have a diagnosis of HSP.

After you sign up you will complete a questionnaire about factors such as your age, diagnosis and family history, previous falls as well as your current symptoms and their perceived severity. Once you return these forms you will be sent diary packs. These will be used to indicate your falls and their characteristics on a daily basis. The falls diaries will ask about how you fell, what you were doing at the time and the perceived cause of the fall. Every 2 weeks you will need to return the falls diary sheets or an indication that you have not fallen in that period. We will collect the falls diary over a 3 month period.

The study is being completed by the researcher as part of her Master’s degree in Neurological Rehabilitation at Plymouth University and results will therefore be written up to form their thesis. The results of this study aim to be published in 2018 and presented at relevant national and local conferences. They will also present the results at UK HSP support group meetings.

To take part, the full details are right at the end of the March 2017 UK HSP support group newsletter: http://hspgroup.org/images/Newslink/March2017.pdf

I have signed up for this study, even though I havent had any falls as a result of my HSP. I queried if my no-falls data would be beneficial before signing up. The initial questionnaire is actually 7 short questionnaires covering different aspects. It didnt take me long to fill those in, and I will be using some of these questions in one of my autumn surveys!

Tuesday, 18 April 2017

Other conditions

This post provides a load of information about conditions that are mis-diagnosed for HSP. If you do not have a certain diagnosis this information may help open other avenues for you. I have given the support groups a UK focus. Information on symptoms has been taken from the NHS website, with some info from the various support group links below. Conditions included below are:

Ataxia

Friedreich's ataxia (FA)

Spinocerebellar ataxias (SCA)

Motor neurone disease (MND)

            Amyotrophic lateral sclerosis (ALS)

Progressive muscular atrophy (PMA)

Primary lateral sclerosis (PLS)

Muscular dystrophy 

            Duchenne MD (DMD)

Becker muscular dystrophy (BMD)

Cerebral palsy 

Spastic cerebral palsy (CP) - can be Hemiplegia, Diplegia, Quadraplegia

Multiple sclerosis (MS)

Arthritis (Arth)

Osteoarthritis

Rheumatoid arthritis

Charcot-Marie-Tooth disease (CMT)

Diabetes (Diab)

Vitamin B12 deficiency (B12)

Peripheral neuropathy (PN)


I have used the text from below to compile this table which shows how the symptoms differ between conditions, using the abbreviations above along with PHSP: Pure HSP, and CHSP: Complicated HSP. (I'll re-visit this table with updates as time goes by)

  PHSP CHSP FA SCA MND DMD BMD CP MS Arth CMT Diab B12 PN
Weak legs/walking issues ü ü ü ü ü ü ü ü ü ü ü ü ü ü
Stiffness/cramps ü ü ü ü     ü ü ü ü ü      
Balance/co-ordination
ü ü ü ü       ü         ü
Weak grip         ü                  
Learning/memory issues   ü   ü   ü   ü ü       ü  
Swallowing   ü ü ü       ü            
Vision/hearing issues   ü ü ü       ü       ü ü  
Speech issues   ü ü ü ü ü   ü            
Bladder issues ü ü
ü

 
ü     ü    
Fatigue ü ü             ü     ü ü  
Pain                   ü       ü
Bruising/Itching/Wound healing   ü                   ü ü  
Numbness/sensation/tingling hands/feet ü ü ü ü         ü   ü   ü ü
Diabetes     ü                 ü    
 

Ataxia

Ataxia is the name given to a group of neurological disorders that affect balance, coordination, and speech. There are many different types of ataxia that can affect people in different ways. 

Friedreich's ataxia

Friedreich's ataxia is the most common type of hereditary ataxia. Symptoms usually first develop before the age of 25, although it can develop in people much older than this.
Signs and symptoms of Friedreich's ataxia can include:
·                     problems with balance and co-ordination, often causing wobbliness, clumsiness and frequent falls
·                     increasingly slurred, slow and unclear speech (dysarthria)
·                     increasing weakness in the legs – many people find walking difficult and need to use a wheelchair after around 10 to 20 years
·                     difficulty swallowing (dysphagia)
·                     abnormal curvature of the spine (scoliosis)
·                     total or partial vision loss and hearing loss 
·                     diabetes 
·                     thickening of the heart muscles (hypertrophic cardiomyopathy), which can cause chest pain, breathlessness and an irregular heartbeat
·                     loss of sensation in the hands and feet (peripheral neuropathy)
The symptoms of Friedreich's ataxia usually get gradually worse over many years. People with the condition tend to have a shorter life expectancy than normal. Many people live until at least their 30s, and some can live into their 60s or beyond.

Spinocerebellar ataxias

Spinocerebellar ataxias (SCAs) are a group of hereditary ataxias that often don't begin until adulthood, affecting people from the age of 25 up to 80, depending on the type of SCA. Occasionally, some types of SCA begin in childhood.
The symptoms vary depending on the type of SCA. They can include:

·                     problems with balance and co-ordination – many people find walking difficult and need to use a wheelchair after a few years
·                     increasingly slurred, slow and unclear speech (dysarthria)
·                     difficulty swallowing (dysphagia)
·                     muscle stiffness and cramps
·                     loss of sensation in the hands and feet (peripheral neuropathy)
·                     memory loss and difficulties with spoken language
·                     slow eye movement, which means people have to move their head to compensate
·                     reduced bladder control (urinary urgency or incontinence)


Mission 
We will fund and promote research with the aim of bringing about treatments and a cure for ataxia by 2020. We want a cure for this generation. Until this is achieved, we will do all that we can to provide support services to the families and carers of people with ataxia to enable those with the condition to have the highest possible quality of life. 
Supporting people living with ataxia 
  • We provide a variety of information on ataxia, and its impact, and practical implications of living with ataxia and publish a quarterly magazine.
  • We have a Helpline and Advocacy Service to support people around ataxia related issues.
  • We facilitate peer support among those affected by ataxia (patients, families and carers) by providing opportunities for people to meet at Annual and Regional Conferences and through our Branches & Support Group network, which has grown from 10 to 70 groups in the last 8 years. In addition we hold, information seminars and other events.

Motor neurone disease

Motor neurone disease is a rare condition that progressively damages parts of the nervous system. This leads to muscle weakness, often with visible wasting.
The symptoms of motor neurone disease begin gradually over weeks and months, usually on one side of the body initially, and get progressively worse. Common early symptoms include:
·                     a weakened grip, which can cause difficulty picking up or holding objects
·                     weakness at the shoulder that makes lifting the arm difficult
·                     a "foot drop" caused by weak ankle muscles
·                     dragging of the leg
·                     slurred speech (dysarthria)
The condition isn't usually painful.
The condition can affect adults of all ages, including teenagers, although this is extremely rare. It's usually diagnosed in people over 40, but most people with the condition first develop symptoms in their 60s. It affects slightly more men than women.
Motor neurone disease is a severely life-shortening condition for most people. Life expectancy for about half of those with the condition is three years from the start of symptoms. However, some people may live for up to 10 years, and in rarer circumstances even longer.

There are four main types of MND, each affecting people in different ways. There can be a great deal of overlap between these types, which may make it difficult to provide an exact diagnosis.

Amyotrophic lateral sclerosis (ALS)

This is the most common form, with both upper and lower motor neurone involvement. This form of the disease is characterised by weakness and wasting in the limbs. Someone may notice they are tripping when walking or dropping things. Average life expectancy is from two to five years from onset of symptoms.

Progressive muscular atrophy (PMA)

PMA affects only a small proportion of people, mainly causing damage to the lower motor neurones. Early symptoms may be noticed as weakness or clumsiness of the hand. Most people live for more than five years.

Primary lateral sclerosis (PLS)

A rare form of MND involving the upper motor neurones only, causing mainly weakness in the lower limbs, although some people may experience clumsiness in the hands or speech problems. Life span is usually more than 10 years from onset of symptoms. As symptoms develop, some cases may be re-diagnosed as ALS.


The Motor Neurone Disease Association is the only national charity in England, Wales and Northern Ireland focused on MND care, research and campaigning.
Our vision is of a world free from MND.
OUR MISSION:
  • We improve care and support for people with MND, their carers and families
  • We fund and promote research that leads to new understanding and treatments and brings us closer to a cure for MND
  • We campaign and raise awareness so the needs of people with MND and everyone who cares for them are recognised and addressed by wider society


Muscular dystrophy 

The muscular dystrophies (MD) are a group of around 60 inherited genetic conditions that gradually cause the muscles to weaken, leading to an increasing level of disability.
MD is a progressive condition, which means it gets worse over time. It often begins by affecting a particular group of muscles, before affecting the muscles more widely.
Some types of MD eventually affect the heart or the muscles used for breathing, at which point the condition becomes life-threatening.

There are many different types of MD, each with somewhat different symptoms. Not all types cause severe disability and many don't affect life expectancy.

Duchenne MD – one of the most common and severe forms, it usually affects boys in early childhood; men with the condition will usually only live into their 20s or 30s
A child with Duchenne MD may:
·                     have difficulty walking, running or jumping
·                     have difficulty standing up
·                     learn to speak later than usual
·                     be unable to climb the stairs without support
·                     have behavioural or learning difficulties

Becker muscular dystrophy - closely related to Duchenne MD, but it develops later in childhood and is less severe; life expectancy isn't usually affected as much. A child with the condition may:
·                     learn to walk later than usual
·                     have muscle cramps when exercising
·                     struggle with sports at school
During late childhood or early adulthood, people with Becker MD often find they have difficulty running, walking quickly and climbing stairs. As they get older, they may also find lifting objects above waist height difficult. 


Muscular Dystrophy UK (previously known as the Muscular Dystrophy Campaign) is the charity bringing individuals, families and professionals together to beat muscle-wasting conditions.

Our vision

A world with effective treatments and cures for all muscle-wasting conditions and no limits in life for individuals and families affected.
  • We support high quality research to find effective treatments and cures and won’t stop until we have found them for all muscle-wasting conditions
  • We are leading the drive to get faster access to emerging treatment for families in the UK
  • We ensure everyone has the specialist NHS care and support they need – the right help at the right time, wherever they live.
  • We provide a range of services and resources to help people live as independently as possible.


Cerebral palsy 

Cerebral palsy is the name for a group of lifelong conditions that affect movement and co-ordination, caused by a problem with the brain that occurs before, during or soon after birth. The symptoms of cerebral palsy aren't usually obvious just after a baby is born. They normally become noticeable during the first two or three years of a child's life.
Symptoms can include:
·                     delays in reaching development milestones – for example, not sitting by eight months or not walking by 18 months
·                     seeming too stiff or too floppy
·                     weak arms or legs
·                     fidgety, jerky or clumsy movements
·                     random, uncontrolled movements
·                     walking on tip-toes
·                     a range of other problems – such as swallowing difficulties, speaking problems, vision problems and learning disabilities
There are three types of cerebral palsy. The severity of symptoms can vary significantly. Some people only have minor problems, while others may be severely disabled.
:
Spastic cerebral palsy
This is the most common form of cerebral palsy which appears in around 75% of cases.
The most notable symptoms of spastic cerebral palsy are rigid limbs although the amount does very from case to case.  Movements tend to be stiff and jerky and as the condition becomes mature muscles may become shortened. The child may suffer from learning disabilities

Spastic cerebral palsy can also be sub-divided by the extent to which the body is affected:
Hemiplegia means that both the arms and legs of one side only are affected.
Diplegia means that both legs are affected however arms are not necessarily affected or only mildly.
Quadraplegia means that legs and arms are affected and may be in varying levels


Supporting children, adults and their families affected by Cerebral Palsy.

There are many organisations and charities which support children and adults with cerebral palsy and the dedication shown by these people, many who provide their time for free, is indicative of the people you will meet along the way. CerebralPalsy.org.uk provides support by offering impartial information on a broad range of subjects that people affected by CP should find useful.

Multiple sclerosis 

Multiple sclerosis (MS) is a condition which can affect the brain and/or spinal cord, causing a wide range of potential symptoms, including problems with vision, arm or leg movement, sensation or balance. It's a lifelong condition that can sometimes cause serious disability, although it can occasionally be mild. In many cases, it’s possible to treat symptoms. Average life expectancy is slightly reduced for people with MS.
It's most commonly diagnosed in people in their 20s and 30s, although it can develop at any age. It's about two to three times more common in women than men.

Symptoms of MS

The symptoms of MS vary widely from person to person and can affect any part of the body.
The main symptoms include:
·                     fatigue
·                     difficulty walking
·                     vision problems, such as blurred vision
·                     problems controlling the bladder
·                     numbness or tingling in different parts of the body
·                     muscle stiffness and spasms
·                     problems with balance and co-ordination
·                     problems with thinking, learning and planning
Depending on the type of MS you have, your symptoms may come and go in phases, or get steadily worse over time (progress).



We’re the MS Society – a community of people living with MS, scientists, campaigners, volunteers and fundraisers. We understand what life’s like with MS, and we support each other through the highs, lows and everything in between. And we’re driving research into more – and better – treatments. For everyone. Our goals are: Effective treatments, Responsive care and support, Preventing MS, Quality information, A strong community, independent lives, Supporting families and carers, Greater certainty about the future


Arthritis

Arthritis is a common condition that causes pain and inflammation in a joint.

Osteoarthritis

Osteoarthritis is the most common type of arthritis in the UK. It most often develops in adults who are in their late 40s or older. It's also more common in women and people with a family history of the condition. Osteoarthritis initially affects the smooth cartilage lining of the joint. This makes movement more difficult than usual, leading to pain and stiffness.

Rheumatoid arthritis

In the UK, rheumatoid arthritis affects more than 400,000 people. It often starts when a person is between 40 and 50 years old. Women are three times more likely to be affected than men.

Symptoms of arthritis

The symptoms of arthritis you experience will vary depending on the type you have.
This is why it's important to have an accurate diagnosis if you have:
·                     joint pain, tenderness and stiffness
·                     inflammation in and around the joints
·                     restricted movement of the joints
·                     warm, red skin over the affected joint
·                     weakness and muscle wasting


Arthritis Care is the UK’s leading arthritis charity offering information and support to everyone affected by arthritis. Arthritis Care provides a number of online and face to face services to ensure that no one faces arthritis alone. There are also branches and groups all over the country, where you can chat to other people with the condition, in a social setting and our helpline is here for a friendly chat.  No one should have to face arthritis alone.

Charcot-Marie-Tooth disease

Charcot-Marie-Tooth disease (CMT) is a group of inherited conditions that damage the peripheral nerves. It's also known as hereditary motor and sensory neuropathy (HMSN).
The peripheral nerves are found outside the main central nervous system (brain and spinal cord). They control the muscles and relay sensory information, such as the sense of touch, from the limbs to the brain.

People with CMT may have:
·                     muscle weakness in the feet, ankles, legs and hands
·                     an awkward way of walking (gait)
·                     highly arched or very flat feet
·                     numbness in the feet, arms and hands

The symptoms of CMT usually start to appear between the ages of five and 15, although they sometimes don't develop until well into middle age or later. CMT is a progressive condition. This means the symptoms slowly get worse, making everyday tasks increasingly difficult.

Support Group: http://cmt.org.uk/

 

Mission:  “Working to support those who are affected by Charcot-Marie-Tooth Disease”
Aims and Objectives: To offer assistance and support to those people who have Charcot-Marie- Tooth Disease. To promote research into the means by which CMT may be prevented and treated and to circulate the results of such research for the benefit of the public.

Diabetes

Diabetes is a lifelong condition that causes a person's blood sugar level to become too high. The main symptoms of diabetes include:
·                     feeling very thirsty
·                     urinating more frequently than usual, particularly at night
·                     feeling very tired
·                     weight loss and loss of muscle bulk
·                     itching around the penis or vagina, or frequent episodes of thrush
·                     cuts or wounds that heal slowly
·                     blurred vision
Type 1 diabetes can develop quickly over weeks or even days.
Many people have type 2 diabetes for years without realising because the early symptoms tend to be general.


Diabetes UK is the leading charity that cares for, connects with and campaigns on behalf of every person affected by or at risk of diabetes. We provide information, help and peer support, so people with diabetes can manage their condition effectively. We are one of the largest funders of diabetes research in the UK

Vitamin B12 or folate deficiency anaemia

Vitamin B12 or B9 (commonly called folate) deficiency anaemia occurs when a lack of vitamin B12 or folate causes the body to produce abnormally large red blood cells that can't function properly. Red blood cells carry oxygen around the body using a substance called haemoglobin. Anaemia is the general term for having either fewer red blood cells than normal or having an abnormally low amount of haemoglobin in each red blood cell.

Vitamin B12 and folate perform several important functions in the body, including keeping the nervous system healthy. A deficiency in either of these vitamins can cause a wide range of problems, including:
·                     extreme tiredness
·                     a lack of energy
·                     pins and needles (paraesthesia)
·                     a sore and red tongue
·                     mouth ulcers
·                     muscle weakness
·                     disturbed vision
·                     psychological problems, which may include depression and confusion 
·                     problems with memory, understanding and judgement

Some of these problems can also occur if you have a deficiency in vitamin B12 or folate, but don't have anaemia. Most cases of vitamin B12 and folate deficiency can be easily treated with injections or tablets to replace the missing vitamins.

Peripheral neuropathy

Peripheral neuropathy develops when nerves in the body's extremities – such as the hands, feet and arms – are damaged. The symptoms depend on which nerves are affected. The main symptoms of peripheral neuropathy can include:
·                     numbness and tingling in the feet or hands
·                     burning, stabbing or shooting pain in affected areas
·                     loss of balance and co-ordination
·                     muscle weakness, especially in the feet
These symptoms are usually constant, but may come and go.

I cant find a support group for this specifically, but these links might be useful: