About Machado-Joseph disease type 1

What is Machado-Joseph disease type 1?

Machado-Joseph disease type 1 (MJD1) is a rare, inherited, progressive neurological disorder caused by a mutation in the ATXN3 gene. It is characterized by a wide range of symptoms, including difficulty walking, impaired speech, difficulty swallowing, and involuntary muscle movements. It is also known as spinocerebellar ataxia type 3 (SCA3).

What are the symptoms of Machado-Joseph disease type 1?

The most common symptoms of Machado-Joseph disease type 1 include:

• Progressive difficulty with walking, balance, and coordination
Muscle Weakness and spasticity
• Drooping eyelids (ptosis)
• Difficulty speaking (dysarthria)
• Difficulty swallowing (dysphagia)
Abnormal eye movements (nystagmus)
Loss of sensation in the arms and legs (peripheral neuropathy)
• Loss of bladder and bowel control
• Cognitive decline
• Sleep disturbances
• Seizures
• Tremors
• Difficulty with fine motor skills
• Difficulty with coordination of voluntary movements (ataxia)
Scoliosis (curvature of the spine)
• Hearing loss

What are the causes of Machado-Joseph disease type 1?

Machado-Joseph disease type 1 is caused by a mutation in the ATXN3 gene. This gene provides instructions for making a protein called ataxin-3, which is involved in the normal functioning of nerve cells in the brain. The mutation causes the ataxin-3 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 1.

What are the treatments for Machado-Joseph disease type 1?

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 sleeping.

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

6. Genetic counseling: Genetic counseling can help families understand the risks associated with Machado-Joseph disease type 1 and provide support.

What are the risk factors for Machado-Joseph disease type 1?

1. Family history: Machado-Joseph disease type 1 is an inherited disorder, so having a family history of the disease is a major risk factor.

2. Age: The risk of developing Machado-Joseph disease type 1 increases with age.

3. Ethnicity: Machado-Joseph disease type 1 is more common in people of Azorean descent.

4. Gender: Men are more likely to develop Machado-Joseph disease type 1 than women.

Is there a cure/medications for Machado-Joseph disease type 1?

At this time, there is no cure for Machado-Joseph disease type 1. However, there are medications that can help manage the symptoms of the disease. These medications include muscle relaxants, anticonvulsants, and medications to help with sleep disturbances. Physical therapy and occupational therapy can also help manage the symptoms of the disease.