Congenital myopathy

Diagnosis

The diagnosis of congenital myopathy involves assessment of symptoms, performing a physical examination, and in most cases, ordering several tests.

The tests that may be required include:

• Blood test: Creatine kinase is an enzyme that serves as a sensitive marker for muscle damage, and its presence in the blood is a clear indication of muscle tissue injury or stress.
• Electromyogram (EMG): This is a procedure used to assess the condition and performance of the skeletal muscles, along with the nerves governing their function.
• Muscle biopsy: In this procedure, a sample tissue is extracted for laboratory analysis, specifically to examine the child’s muscles’ cellular alterations.
• Genetic testing: Alterations in the genes that cause myopathy can be found through genetic testing.

Treatment

Treatment for central core disease and multicore disease may include the experimental use of albuterol to mitigate muscle weakness, although it does not provide a cure. For all congenital myopathy types, symptom management is essential, encompassing orthopedic interventions if necessary, along with physical, occupational, and speech therapies. Ongoing research into potential gene therapies offers promise for future treatment options.