Congenital Muscular Dystrophy Treatment & Management

Updated: Dec 24, 2015
  • Author: Glenn Lopate, MD; Chief Editor: Amy Kao, MD  more...
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Treatment

Medical Care

No specific treatment is available for any of the congenital muscular dystrophies.

Aggressive supportive care is essential to preserve muscle activity, to allow for maximal functional ability, and to prolong the patient's life expectancy.

  • The primary neuromuscular concerns include prevention and correction of skeletal abnormalities, such as scoliosis, foot deformities, and contractures, to maintain ambulation.

  • Aggressive use of passive stretching, bracing, and orthopedic procedures, such as spinal fusion, allows the patient to remain independent for as long as possible.

Pulmonary complications are the other main concern.

  • Early monitoring and intervention to treat respiratory insufficiency is important because effective therapies can help to improve function and prolong life expectancy.

  • Such therapies include noninvasive bilevel positive airway pressure and/or continuous positive airway pressure or permanent ventilation via a tracheostomy.

Cardiac complications are especially common in patients with a mutation in FKRP and occasionally in patients with laminin-α2 deficiency. Treatment of dilated cardiomyopathy with ACE inhibitors and beta-blockers may be necessary.

Children with congenital muscular dystrophy may have other neurologic treatment issues, including seizure management, need for supplementary gastric tube feedings, ophthalmologic care, and general medical concerns that occur in profoundly retarded children.

As with other hereditary myopathies, a team approach, including a neurologist, pulmonologist, ophthalmologist, cardiologist, orthopedic surgeon, physical medicine specialist, orthotist, and counselors, is required to ensure the best possible care.

In patients with CMD with familial junctional epidermolysis bullosa besides the above standard measures, management must include supportive care to protect the skin from blistering, appropriate dressings, and prevention of secondary infections. Activities should minimize skin trauma.

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Surgical Care

Orthopedic surgery is often necessary in patients who live several years with their disease to prevent contractures and scoliosis.

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Consultations

According to evidence-based guidelines from the American Academy of Neurology, multidisciplinary care by experienced teams is important for diagnosing and promoting the health of children with CMD. [51]

Consultation with the following may prove helpful:

  • Ophthalmologist

  • Pulmonologist

  • Cardiologist

  • Orthopedic surgeon

  • Epileptologist

  • Physical medicine specialist

  • Dermatologist (patients with CMD with familial junctional epidermolyis bullosa)

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