Congenital Muscular Dystrophy

Congenital muscular dystrophy (CMD) is a group of diseases affecting the muscles that occur at birth or during infancy. CMD is characterized by progressive muscle weakness and degeneration, severe joint stiffness (contractures) and delays in achieving motor milestones such as unassisted sitting or standing. Some forms of CMD may be associated with structural brain defects and mental retardation.

Diagnosis of CMD is made based on clinical findings, imaging tests performed on the brain and muscles, molecular genetic testing (DNA is tested for abnormalities), and removal of the affected muscle (biopsy) for analysis in the laboratory.

No definitive treatment is available for congenital muscular dystrophy; however, the condition can be managed with supportive care to improve the patient’s quality of life and longevity. Treatment is designed with regard to the specific symptoms. Orthopaedic complications may require surgical interventions. Physical therapy and assistive devices such as braces, wheelchairs and walkers can help promote mobility and treat contractures. Respiratory therapy and respiratory aids may be recommended for those with respiratory insufficiency. Speech therapy and close attention to oral hygiene may also be indicated.