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: