About Machado-Joseph disease type 2

What is Machado-Joseph disease type 2?

Machado-Joseph disease type 2 (MJD2) is a rare, inherited neurological disorder caused by a mutation in the ATXN3 gene. It is characterized by progressive muscle weakness, difficulty walking, and involuntary muscle movements. Other symptoms may include difficulty speaking, swallowing, and breathing, as well as vision and hearing loss. There is currently no cure for MJD2, but treatments are available to help manage symptoms.

What are the symptoms of Machado-Joseph disease type 2?

The symptoms of Machado-Joseph disease type 2 can vary from person to person, but generally include:

- Muscle Weakness and stiffness

- Difficulty walking
- Loss of coordination
- Loss of balance
- Difficulty speaking
- Difficulty swallowing
- Drooping eyelids
- Abnormal eye movements
- Loss of facial expression
- Tremors
- Seizures
- Cognitive decline
- Depression
- Anxiety
- Sleep disturbances
- Urinary incontinence

What are the causes of Machado-Joseph disease type 2?

Machado-Joseph disease type 2 is caused by a mutation in the ATXN2 gene. This gene provides instructions for making a protein called ataxin-2, which is involved in the normal functioning of nerve cells in the brain. The mutation causes the ataxin-2 protein to become abnormally large and accumulate in the nucleus of cells, leading to the death of these cells. This ultimately results in the symptoms of Machado-Joseph disease type 2.

What are the treatments for Machado-Joseph disease type 2?

1. Physical therapy: Physical therapy can help improve muscle strength, coordination, and balance.

2. Occupational therapy: Occupational therapy can help with activities of daily living, such as dressing, eating, and bathing.

3. Speech therapy: Speech therapy can help improve communication skills.

4. Medications: Medications can help reduce symptoms such as muscle spasms, tremors, and difficulty swallowing.

5. Surgery: Surgery may be recommended to help improve mobility and reduce pain.

6. Assistive devices: Assistive devices, such as wheelchairs, walkers, and braces, can help improve mobility.

7. Genetic counseling: Genetic counseling can help families understand the risks associated with Machado-Joseph disease type 2 and provide support.

What are the risk factors for Machado-Joseph disease type 2?

1. Age: Machado-Joseph disease type 2 typically affects individuals between the ages of 30 and 50.

2. Family history: Having a family history of Machado-Joseph disease type 2 increases the risk of developing the condition.

3. Ethnicity: Machado-Joseph disease type 2 is more common in people of Portuguese, Japanese, and Azorean descent.

4. Gender: Machado-Joseph disease type 2 is more common in males than females.

Is there a cure/medications for Machado-Joseph disease type 2?

At this time, there is no cure for Machado-Joseph disease type 2. However, medications can be used to help manage the symptoms of the disease. These medications may include muscle relaxants, anticonvulsants, and medications to help with sleep disturbances. Physical therapy and occupational therapy can also help to improve mobility and quality of life.