What is Machado Joseph disease (MJD)?
MJD—also called spinocerebellar ataxia Type 3 (SCA3)—is one of approximately 30 recognized, dominantly inherited forms of ataxia. Ataxia is a general term meaning lack of muscle control or coordination. MJD is characterized by slowly progressive clumsiness in the arms and legs, a staggering lurching gait that can be mistaken for drunkenness, difficulty with speech and swallowing, impaired eye movements sometimes accompanied by double vision or bulging eyes, and lower limb spasticity.
MJD is a progressive disease, meaning that symptoms worsen with time. Life expectancy ranges from the mid-30s for those with the most severe forms of early onset MJD to a nearly normal life expectancy for those with mild, late onset forms. The cause of death for those who die early from the disease is often aspiration pneumonia.
For those wanting a bit more detail:
Machado Joseph Disease (MJD) is a hereditary neuro-degenerative condition. MJD occurs because of a fault on chromosome 14q that results in the production of too much of an abnormal protein known as ‘Ataxin 3’. This protein causes nerve cells to die prematurely in a part of the brain called the cerebellum, along with the brainstem. The damage to the cerebellum and brainstem initially causes muscular weakness and progresses over time to a total lack of voluntary control and very significant permanent physical disability.
MJD is in a ‘family’ of neuro-degenerative diseases that includes Huntington’s Disease and is one of the spino-cerebellar ataxias (SCAs). MJD is also known as SCA3. Many MJD symptoms are very similar to Huntington’s. The most significant difference is that there is limited cognitive deterioration; although recent literature suggests that there may be some high level executive processing deficits, in practical terms people with MJD remain intellectually and emotionally intact throughout the progression of the disease.
There is no cure!
Please see the below file from the MJD Foundation which contains easy to read information about Machado-Joseph disease (MJD)
MJD—also called spinocerebellar ataxia Type 3 (SCA3)—is one of approximately 30 recognized, dominantly inherited forms of ataxia. Ataxia is a general term meaning lack of muscle control or coordination. MJD is characterized by slowly progressive clumsiness in the arms and legs, a staggering lurching gait that can be mistaken for drunkenness, difficulty with speech and swallowing, impaired eye movements sometimes accompanied by double vision or bulging eyes, and lower limb spasticity.
MJD is a progressive disease, meaning that symptoms worsen with time. Life expectancy ranges from the mid-30s for those with the most severe forms of early onset MJD to a nearly normal life expectancy for those with mild, late onset forms. The cause of death for those who die early from the disease is often aspiration pneumonia.
For those wanting a bit more detail:
Machado Joseph Disease (MJD) is a hereditary neuro-degenerative condition. MJD occurs because of a fault on chromosome 14q that results in the production of too much of an abnormal protein known as ‘Ataxin 3’. This protein causes nerve cells to die prematurely in a part of the brain called the cerebellum, along with the brainstem. The damage to the cerebellum and brainstem initially causes muscular weakness and progresses over time to a total lack of voluntary control and very significant permanent physical disability.
MJD is in a ‘family’ of neuro-degenerative diseases that includes Huntington’s Disease and is one of the spino-cerebellar ataxias (SCAs). MJD is also known as SCA3. Many MJD symptoms are very similar to Huntington’s. The most significant difference is that there is limited cognitive deterioration; although recent literature suggests that there may be some high level executive processing deficits, in practical terms people with MJD remain intellectually and emotionally intact throughout the progression of the disease.
There is no cure!
Please see the below file from the MJD Foundation which contains easy to read information about Machado-Joseph disease (MJD)
frequently_asked_questions.pdf | |
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