About Autosomal recessive centronuclear myopathy

What is Autosomal recessive centronuclear myopathy?

Autosomal recessive centronuclear myopathy (AR-CNM) is a rare, inherited neuromuscular disorder characterized by muscle weakness and wasting (atrophy) that begins in infancy or early childhood. It is caused by mutations in the DNM2 gene, which is responsible for the production of a protein involved in muscle contraction. Symptoms of AR-CNM include muscle weakness, hypotonia (low muscle tone), delayed motor development, and difficulty walking. Other features may include facial weakness, ptosis (drooping eyelids), and scoliosis (curvature of the spine).

What are the symptoms of Autosomal recessive centronuclear myopathy?

The symptoms of Autosomal recessive centronuclear myopathy (AR-CNM) vary from person to person, but typically include:

-Delayed motor development
-Muscle weakness
-Muscle wasting
-Difficulty walking
-Frequent falls
-Difficulty with fine motor skills
-Difficulty with speech
-Difficulty swallowing
-Impaired vision
-Impaired hearing
-Impaired coordination
-Impaired balance
-Impaired reflexes
-Scoliosis
-Joint contractures
-Respiratory problems
-Cardiac problems
-Gastrointestinal problems
-Fatigue

What are the causes of Autosomal recessive centronuclear myopathy?

Autosomal recessive centronuclear myopathy (AR-CNM) is a rare genetic disorder caused by mutations in the DNM2, BIN1, and TTN genes. Mutations in these genes can lead to a decrease in the production of proteins that are essential for muscle function. This can cause muscle weakness, fatigue, and difficulty with movement. Other symptoms may include droopy eyelids, difficulty swallowing, and breathing problems.

What are the treatments for Autosomal recessive centronuclear myopathy?

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

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

3. Assistive devices: Assistive devices, such as wheelchairs, walkers, and braces, can help with mobility.

4. Medications: Medications, such as muscle relaxants and antispasmodics, can help reduce muscle spasms and pain.

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

6. Nutritional support: Nutritional support, such as a high-calorie diet, can help maintain muscle strength and prevent weight loss.

7. Genetic counseling: Genetic counseling can help families understand the inheritance

What are the risk factors for Autosomal recessive centronuclear myopathy?

1. Genetic mutations in the MTM1 gene.
2. Family history of Autosomal recessive centronuclear myopathy.
3. Consanguinity (marriage between close relatives).
4. Ethnicity (more common in certain ethnic groups).
5. Exposure to certain environmental toxins.

Is there a cure/medications for Autosomal recessive centronuclear myopathy?

At this time, there is no cure for autosomal recessive centronuclear myopathy. However, there are medications that can help manage the symptoms of the condition. These include medications to help with muscle weakness, such as corticosteroids, and medications to help with pain, such as nonsteroidal anti-inflammatory drugs (NSAIDs). Physical therapy and occupational therapy can also help to improve muscle strength and function.