What is Machado-Joseph Disease?

What is Machado-Joseph Disease?

• Machado-Joseph Disease: Rare genetic muscle disease causing muscle weakness.

Machado-Joseph Disease is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Machado-Joseph Disease, or a subtype of Machado-Joseph Disease, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Name and Aliases of Machado-Joseph Disease

Main name of condition: Machado-Joseph Disease

SCA2, MJD

SDSEM, Spinocerebellar ataxia with slow eye movements, Spinocerebellar ataxia, Cuban type, Spinocerebellar atrophy II, Spinocerebellar degeneration with slow eye movements, Wadia Swami syndrome, Spinocerebellar ataxia 2, Olivopontocerebellar atrophy 2, Olivopontocerebellar atrophy, Holguin type, Nigrospinodentatal degeneration, SCA3, Spinocerebellar atrophy type 3, Spinopontine atrophy, Spinocerebellar ataxia 3, Azorean neurologic disease, Nigrospinodentatal degeneration, SCA3, Spinocerebellar atrophy type 3, Spinopontine atrophy, Spinocerebellar ataxia 3, Azorean neurologic disease, MJD
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

Types of Machado-Joseph Disease:

Parent types of Machado-Joseph Disease: Genetic Disease, Autosomal Genetic Diseases, Autosomal Dominant Genetic Diseases, Dominant Genetic Diseases

How many people get Machado-Joseph Disease?

Prevalance of Machado-Joseph Disease: rare

Who gets Machado-Joseph Disease?

Patient Profile for Machado-Joseph Disease: Anywhere from teens to 70's.
Profile for Machado-Joseph Disease: Symptoms can begin any time between early adolescence and about 70 years of age. (Source: excerpt from NINDS Machado-Joseph Disease Information Page: NINDS)

How serious is Machado-Joseph Disease?

Prognosis of Machado-Joseph Disease: Variable. Depends on severity. Life-shortening for some.
Prognosis of Machado-Joseph Disease: The severity of the disease is related to the age of onset, with earlier onset associated with a more severe form of the disease. Symptoms can begin any time between early adolescence and about 70 years of age. MJD is also a progressive disease, meaning that symptoms get worse with time. Life expectancy ranges from the mid-thirties for those with severe forms of MJD to a normal life expectancy for those with mild forms. For those who die early from the disease, the cause of death is often aspiration pneumonia. (Source: excerpt from NINDS Machado-Joseph Disease Information Page: NINDS)
Complications of Machado-Joseph Disease: see complications of Machado-Joseph Disease

What causes Machado-Joseph Disease?

Causes of Machado-Joseph Disease: In Machado-Joseph disease and other spinocerebellar ataxias, degeneration of cells in an area of the brain called the hindbrain leads to deficits in movement. The hindbrain includes the cerebellum, the brainstem, and the upper part of the spinal cord. (Source: excerpt from NINDS Machado-Joseph Disease Information Page: NINDS)
Class of Condition for Machado-Joseph Disease: genetic autosomal dominant
Causes of Machado-Joseph Disease: see causes of Machado-Joseph Disease

Can anyone else get Machado-Joseph Disease?

Inheritance: see inheritance of Machado-Joseph Disease

Inheritance of genetic conditions: see details in inheritance of genetic diseases.

How is it treated?

Treatments for Machado-Joseph Disease: see treatments for Machado-Joseph Disease