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What causes MND? Does MND run in a family or have a genetic connection?

The causes of motor neurone disease are not yet known, but ongoing research throughout the world is looking for causes.

There are many theories, including exposure to environmental toxins and chemicals, infection by viral agents, immune mediated damage, premature ageing of motor neurones, and loss of growth factors required to maintain motor neurone survival and genetic susceptibility.

Most cases of MND occur spontaneously. These are said to be sporadic - meaning occurring in scattered or isolated instances without clearly identifiable causes.There is no evidence that motor neurone disease is transmissible from person to person.

However, About 10% of MND is ‘familial'; that is, there is or has been more than one affected person in a family. The remaining 90% of people with MND are the only affected person in their family and are said to have ‘sporadic' MND.

People with familial MND have the disorder because of a mutation in a gene. A mutation is an error in the genetic code which causes a gene to work abnormally. People with genetic mutations can pass these onto their children. If a person has an MND‐related genetic mutation each of their children has a 50/50 chance of inheriting the MND‐related genetic mutation.

People who inherit an MND‐related genetic mutation have a high, but as yet uncertain, chance of developing MND during their lifetime. However, not all people with an MND‐related genetic mutation will develop MND.

The age at which symptoms of MND appear in people with an MND‐related genetic mutation varies greatly. It can be as early as the 20s and as late as the 80s. As well, the age of onset can vary considerably within a family, even though the mutation carried by family members is the same. The average age of onset of familial MND is around 45 years.

Mutations in the genes that cause MND are also found in some people who have sporadic MND. The number of people with sporadic MND who also have an MND‐related gene mutation is not known.

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How is MND diagnosed?

The diagnosis of motor neurone disease is often clinically difficult, and sometimes it is necessary to review a person for some time before the diagnosis becomes relatively certain. A general practitioner may suspect a neurological problem, and organise referral to a neurologist.

Several other neurological conditions resemble motor neurone disease, especially in the early stages, and need careful exclusion.

The diagnosis can be assisted through a range of tests, including some which eliminate other conditions. Nerve conduction studies (NCS) and electromyography (EMG) are often performed and may help in establishing the diagnosis. NCS involve analysing neural function by electrical stimulation of nerves and recording muscle activity. EMG consists of inserting a needle electrode into various muscles to measure their electrical activity.

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What are the symptoms of MND?

Early symptoms of motor neurone disease are often mild. They may include:

stumbling due to weakness of the leg muscles

difficulty holding objects due to weakness of the hand muscles

slurring of speech or swallowing difficulties due to weakness of the tongue and throat muscles

cramps and muscle twitching (fasciculation).

For most people with MND the senses of sight, hearing, taste, smell and touch are not affected.

The bladder is not usually directly affected by MND; however, some people experience changes to bladder control. Constipation can occur, especially when people bec ome less mobile or have to change their diet due to swallowing difficulties.

In the past, it was thought that MND only affected the nerve cells controlling the muscles that enable us to move, speak, breathe and swallow. However, approximately 50% of people with MND may experience some change in cognition, language, behaviour and personality. When cognitive and behaviour changes occur in MND, it is because there have been changes in specific areas of the brain called the frontal and temporal lobes. Most people experience relatively mild changes. However, a small proportion (5–15%) will show more significant changes and will receive a diagnosis of ‘motor neurone disease with frontotemporal dementia’ or MND/FTD. Often the symptoms of dementia precede the motor symptoms, sometimes by a number of years.

The effects of motor neurone disease - initial symptoms, rate and pattern of progression, and survival time after diagnosis vary significantly from person to person.

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Sarah's Story - Motor Neurone Disease Association

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A descriptive explanation of Motor Neurone Disease, its symptoms and effects by Dr. John Campbell 

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Cerebellar ataxia is mostly a degenerative disease, or inflammatory causes include cerebellar incoordination of voluntary movement and balance disorders. Motor neuron disease is innate and hereditary. She said on dogs ages 2, 5 and also 6 years, affecting as many males than females. Some...

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Do you find the MND association helpful? Where do you find the most sense of community related to MND? I'm wondering Youtube vs tumblr vs etc... Thanks so much.

I personally don’t look much on the official MND site, but my mum does. She finds the forums really useful for advice, and just being able to relate to other peoples struggles. For me personally, I find the Facebook group ‘weekend wipeout mnd’ a good social support group for myself. It has members that suffer from MND and also carers and other people affected in other ways. I love their sense of community. As for my mum she finds the MND site most useful as she doesn’t have Facebook. I guess it’s down to preference. Hope this answered your question okay feel free to ask anything else :)

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Coping with a chronic, progressive illness is one of the biggest challenges anyone can face. Despite our best efforts, it’s extremely difficult - and unrealistic - to stay positive all the time. And that’s okay. Giving yourself permission to feel sad, angry and upset is very important. If we stifle our emotions, they can become even more overwhelming, which can make an already difficult situation worse.

Mental Health and ALS: Staying Mentally Strong After an ALS Diagnosis - Breakthrough ALS Blog (via adozi)

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Identification of abnormal protein may help diagnose, treat ALS and frontotemporal dementia

Amyotrophic lateral sclerosis (ALS), or Lou Gehrig’s disease, and frontotemporal dementia (FTD) are devastating neurodegenerative diseases with no effective treatment. Researchers are beginning to recognize ALS and FTD as part of a spectrum disorder with overlapping symptoms. Now investigators reporting online February 12 in the Cell Press journal Neuron have discovered an abnormal protein that first forms as a result of genetic abnormalities and later builds up in the brains of many patients with either disease.

“In identifying the novel protein that abnormally accumulates in the brains of affected patients, we have uncovered a potentially new therapeutic target and biomarker that would allow clinicians to confirm diagnosis of the diseases,” says senior author Dr. Leonard Petrucelli, Chair of Neuroscience at Mayo Clinic in Florida.

By analyzing brain tissue from patients with ALS or FTD, Dr. Petrucelli and his team discovered that the abnormal protein, which they call C9RANT, is generated as a result of repeat expansions of nucleotides in the noncoding region of the C9ORF72 gene. These expansions are the most common cause of ALS and FTD. “Simply put, an error in the highly regulated cellular process through which proteins are generated causes the abnormal production of C9RANT,” explains Dr. Petrucelli.

The researchers discovered the protein C9RANT after creating a novel antibody to specifically detect it. The ability to detect C9RANT in individuals’ cerebrospinal fluid may provide a valuable diagnostic and prognostic tool for identifying patients carrying the C9ORF72 repeat expansion and for then tracking the progression of the disease in these at-risk individuals.

“Although it remains to be shown whether C9RANT is causing the cell death or toxicity associated with disease symptoms, our discovery offers a potential target to prevent neuronal loss in patients carrying the C9ORF72 repeat expansion,” says Dr. Petrucelli.

The concept that abnormal proteins accumulate and can be toxic to cells is not new. In fact, tau protein forms tangles in Alzheimer’s disease and alpha-synuclein forms clumps in Parkinson’s disease. Just as new therapies are being developed to break down the protein aggregates associated with these diseases, developing a therapeutic strategy to target C9RANT aggregates may also prove beneficial.

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What is Motor Neurone Disease?

Motor neurone disease (MND) is the name given to a group of diseases in which the nerve cells (neurones) controlling the muscles that enable us to move, speak, breathe and swallow undergo degeneration and die.

Motor function is controlled by the upper motor neurones in the brain that descend to the spinal cord; these neurones activate lower motor neurones.  The lower motor neurones exit the spinal cord and directly activate muscles.  With no nerves to activate them, muscles gradually weaken and waste. MND can affect a person’s ability to walk, speak, swallow and breathe.  

MND is known as Amyotrophic Lateral Sclerosis (ALS) in many parts of the world, and as Lou Gehrig's disease in the USA.