Congenital myopathy with excess of thin filaments is a rare genetic disorder that affects the muscles. It is caused by a mutation in the gene that codes for the protein desmin, which is a structural protein found in muscle cells. People with this disorder have an excess of thin filaments in their muscle cells, which can lead to muscle weakness and other symptoms.

The symptoms of Congenital myopathy with excess of thin filaments can vary depending on the severity of the condition, but may include:

-Muscle weakness
-Muscle wasting
-Delayed motor development
-Difficulty walking
-Joint contractures
-Scoliosis
-Cardiac arrhythmias
-Respiratory problems
-Gastrointestinal problems
-Feeding difficulties
-Hypotonia
-Facial weakness
-Facial asymmetry
-Low muscle tone
-Difficulty swallowing
-Difficulty speaking
-Difficulty chewing

The exact cause of Congenital myopathy with excess of thin filaments is unknown. However, it is believed to be caused by genetic mutations that affect the production of proteins that form the thin filaments in muscle cells. Mutations in the genes encoding the proteins actin, tropomyosin, and myosin have been identified in some cases.

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, bathing, and eating.

3. Medications: Medications such as corticosteroids, immunosuppressants, and anticonvulsants may be prescribed to help manage symptoms.

4. Surgery: Surgery may be recommended to correct any deformities or joint contractures.

5. Assistive devices: Assistive devices such as braces, walkers, and wheelchairs may be recommended to help with mobility.

6. Nutritional support: Nutritional support may be recommended to help maintain a healthy weight and provide adequate nutrition.

1. Genetic mutations in genes that code for proteins involved in muscle structure and function.
2. Maternal diabetes.
3. Maternal alcohol use.
4. Maternal smoking.
5. Maternal use of certain medications.
6. Maternal exposure to certain environmental toxins.
7. Family history of congenital myopathy.
8. Advanced maternal age.

At this time, there is no cure for congenital myopathy with excess of thin filaments. However, there are medications that can help manage the symptoms of the condition. These medications include muscle relaxants, anticonvulsants, and immunosuppressants. Additionally, physical and occupational therapy can help improve muscle strength and coordination.