INFORMATION ON MACHADO-JOSEPH DISEASE

Machado-Joseph disease also known as spinocerebellar ataxia type 3-is a rare hereditary disease which creates a weakness condition in muscles. Machado-Joseph disease is characterized by clumsiness and weakness in the arms and legs.

SYNONYMS OF MACHADO-JOSEPH DISEASE

1. Autosomal Dominant Spinocerebellar Degeneration
2. Azorean Neurologic Disease
3. Machado Disease
4. Joseph Disease
5. MJD
6. Nigrospinodentatal Degeneration
7. Striatonigral Degeneration, Autosomal Dominant Type
8. Spinocerebellar Ataxia Type III

CAUSES OF MACHADO-JOSEPH DISEASE

The main factor which leads to the development of Machado-Joseph disease is mutation in gene due to which degeneration of cells in an area of the brain called the hindbrain leads to deficits in movement.

SYMPTOMS OF MACHADO-JOSEPH DISEASES

1. Arm weakness
2. Leg weakness
3. Speech difficulty
4. Difficulty swallowing
5. Involuntary eye movements
6. Double vision
7. Frequent urination
8. Muscle contractions
9. Repetitive movements
10. Abnormal postures
11. Parkinson’s-like symptoms
12. Twitching face
13. Twitching tongue
14. Bulging eyes

DIAGNOSIS OF MACHADO-JOSEPH DISEASE

Clinically machado-joseph disease can be diagnosed by:-

1. Genetic testing.
2. Blood test.
3. Biopsy.
4. MRI.

TREATMENT OF MACHADO-JOSEPH DISEASE

So far Machado-Joseph disease is incurable, but some symptoms of the Machado-Joseph disease can be treated. For the subjects who show Parkinson features, levodopa therapy can help for many years. Treatment with antispasmodic drugs, such as baclofen, can help to reduce spasticity. Botulinum toxin can also be helpful in treating severe spasticity as well as some symptoms of dystonia.