Problems and solutions in congenital muscular dystrophies

Contractures

Stiff or “frozen” joints (contractures) can be present at birth or develop as muscles weaken, but regular physical therapy designed to maintain range of motion at the joints can help combat this problem.

Scoliosis

Weak trunk muscles can lead to curvature of the spine, or scoliosis, which, in turn, can limit mobility and interfere with breathing. Corrective surgery may eventually be required. Muscle weakness Leg braces or a wheelchair may eventually be needed to help with mobility. An occupational therapist can help those with CMD find the best ways to perform day-to-day functions, often through use of assistive devices.

Respiratory insufficiency

Advanced or severe weakness of the respiratory muscles (the diaphragm and rib cage muscles) may interfere with breathing. Symptoms of respiratory insufficiency include morning headaches, fatigue, sleeplessness, weakened or softened voice, and coughing. There are many options available to help with this problem, ranging from noninvasive nighttime ventilation to a tracheostomy.

Seizures and vision problems

Specialists can address these problems with a variety of therapies.

What can be done to treat congenital MDs?

Right now, the available treatments are supportive. Physical therapy, spine-straightening and contracture-releasing surgery, good respiratory care, including assisted ventilation in some cases, are the mainstays.

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