About MYH7-related late-onset scapuloperoneal muscular dystrophy

What is MYH7-related late-onset scapuloperoneal muscular dystrophy?

MYH7-related late-onset scapuloperoneal muscular dystrophy is a rare form of muscular dystrophy that is caused by a mutation in the MYH7 gene. It is characterized by progressive muscle weakness and wasting, primarily affecting the shoulder and pelvic girdles. Symptoms usually begin in adulthood and can include difficulty walking, difficulty lifting objects, and muscle cramps.

What are the symptoms of MYH7-related late-onset scapuloperoneal muscular dystrophy?

The symptoms of MYH7-related late-onset scapuloperoneal muscular dystrophy vary from person to person, but typically include:

- Muscle Weakness in the shoulder and pelvic girdle muscles
- Difficulty walking, running, and climbing stairs
- Muscle wasting in the arms and legs
- Drooping of the eyelids
- Difficulty swallowing
- Difficulty speaking
- Muscle cramps
- Fatigue
- Joint contractures
- Scoliosis
- Cardiomyopathy

What are the causes of MYH7-related late-onset scapuloperoneal muscular dystrophy?

MYH7-related late-onset scapuloperoneal muscular dystrophy is caused by mutations in the MYH7 gene. This gene provides instructions for making a protein called myosin, which is found in muscle cells. Mutations in the MYH7 gene can cause the myosin protein to be abnormally shaped or not function properly, leading to muscle weakness and wasting.

What are the treatments for MYH7-related late-onset scapuloperoneal muscular dystrophy?

1. Physical therapy: Physical therapy can help improve muscle strength, flexibility, and range of motion.

2. Occupational therapy: Occupational therapy can help improve daily activities and independence.

3. Assistive devices: Assistive devices such as braces, canes, and walkers can help improve mobility.

4. Medications: Medications such as corticosteroids and immunosuppressants can help reduce inflammation and improve muscle strength.

5. Surgery: Surgery may be recommended to correct joint deformities or to improve mobility.

6. Genetic counseling: Genetic counseling can help individuals and families understand the condition and its implications.

What are the risk factors for MYH7-related late-onset scapuloperoneal muscular dystrophy?

1. Age: Late-onset scapuloperoneal muscular dystrophy is more common in adults over the age of 40.

2. Gender: Males are more likely to be affected than females.

3. Genetics: MYH7-related late-onset scapuloperoneal muscular dystrophy is caused by a mutation in the MYH7 gene.

4. Family history: A family history of the condition increases the risk of developing the disorder.

Is there a cure/medications for MYH7-related late-onset scapuloperoneal muscular dystrophy?

At this time, there is no cure for MYH7-related late-onset scapuloperoneal muscular dystrophy. Treatment focuses on managing symptoms and preventing complications. Medications such as corticosteroids, immunosuppressants, and anticonvulsants may be prescribed to reduce muscle inflammation and spasms. Physical therapy and occupational therapy can help maintain muscle strength and function. Assistive devices such as wheelchairs, walkers, and braces may be recommended to help with mobility.