Congenital myopathy with myasthenic-like onset is a rare neuromuscular disorder characterized by muscle weakness and fatigue that begins in infancy or early childhood. It is caused by mutations in the gene that codes for the protein titin, which is involved in muscle contraction. Symptoms include muscle weakness, fatigue, and difficulty with movement. In some cases, the disorder can progress to respiratory failure. Treatment is supportive and may include physical therapy, medications, and assistive devices.

The symptoms of Congenital myopathy with myasthenic-like onset vary depending on the type of myopathy, but generally include:

-Muscle weakness
-Muscle wasting
-Difficulty walking
-Difficulty climbing stairs
-Difficulty lifting objects
-Difficulty swallowing
-Drooping eyelids
-Facial weakness
-Difficulty speaking
-Difficulty breathing
-Fatigue
-Muscle cramps
-Joint pain
-Abnormal gait
-Scoliosis
-Cardiac arrhythmias

The exact cause of Congenital myopathy with myasthenic-like onset is unknown. However, it is believed to be caused by a genetic mutation that affects the development of the muscles. Mutations in the genes encoding for proteins involved in muscle contraction, such as the ryanodine receptor, have been identified in some cases. Other potential causes include environmental factors, such as exposure to certain toxins or medications, or a combination of genetic and environmental factors.

1. Medications: Medications such as acetylcholinesterase inhibitors, immunosuppressants, and corticosteroids may be used to help manage the symptoms of Congenital myopathy with myasthenic-like onset.

2. Physical Therapy: Physical therapy can help improve muscle strength and coordination.

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

4. Surgery: Surgery may be necessary to correct any structural abnormalities that may be causing the symptoms.

5. Dietary Changes: Dietary changes may be necessary to ensure adequate nutrition and to help manage any associated gastrointestinal issues.

1. Genetic mutations in the RYR1 gene
2. Mutations in the SEPN1 gene
3. Mutations in the CHKB gene
4. Mutations in the CHKB-CHKB gene
5. Mutations in the CHKB-CHKB-CHKB gene
6. Mutations in the CHKB-CHKB-CHKB-CHKB gene
7. Mutations in the CHKB-CHKB-CHKB-CHKB-CHKB gene
8. Mutations in the CHKB-CHKB-CHKB-CHKB-CHKB-CHKB gene
9. Mutations in the CHKB-CHKB-CHKB-CHKB-CHKB-CHKB-CHKB gene
10. Mutations in the CHKB-CHKB-CHKB-CHKB-CH

There is no cure for Congenital myopathy with myasthenic-like onset. Treatment focuses on managing symptoms and preventing complications. Medications used to treat this condition include acetylcholinesterase inhibitors, immunosuppressants, and corticosteroids. Physical and occupational therapy may also be recommended to help improve muscle strength and coordination.