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Congenital Muscular Dystrophy Treatment & Management

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

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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Contributor Information and Disclosures
Author

Glenn Lopate, MD Associate Professor, Department of Neurology, Division of Neuromuscular Diseases, Washington University School of Medicine; Consulting Staff, Department of Neurology, Barnes-Jewish Hospital

Glenn Lopate, MD is a member of the following medical societies: American Academy of Neurology, American Association of Neuromuscular and Electrodiagnostic Medicine, Phi Beta Kappa

Disclosure: Nothing to disclose.

Specialty Editor Board

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Received salary from Medscape for employment. for: Medscape.

Kenneth J Mack, MD, PhD Senior Associate Consultant, Department of Child and Adolescent Neurology, Mayo Clinic

Kenneth J Mack, MD, PhD is a member of the following medical societies: American Academy of Neurology, Child Neurology Society, Phi Beta Kappa, Society for Neuroscience

Disclosure: Nothing to disclose.

Chief Editor

Amy Kao, MD Attending Neurologist, Children's National Medical Center

Amy Kao, MD is a member of the following medical societies: American Academy of Neurology, American Epilepsy Society, Child Neurology Society

Disclosure: Have stock from Cellectar Biosciences; have stock from Varian medical systems; have stock from Express Scripts.

Additional Contributors

Robert Stanley Rust, Jr, MD, MA Thomas E Worrell Jr Professor of Epileptology and Neurology, Co-Director of FE Dreifuss Child Neurology and Epilepsy Clinics, Director, Child Neurology, University of Virginia School of Medicine; Chair-Elect, Child Neurology Section, American Academy of Neurology

Robert Stanley Rust, Jr, MD, MA is a member of the following medical societies: Child Neurology Society, Society for Pediatric Research, American Headache Society, International Child Neurology Association, American Academy of Neurology, American Epilepsy Society, American Neurological Association

Disclosure: Nothing to disclose.

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Dystrophin-glycoprotein complex. The complex bridges the inner cytoskeleton (F-actin) and the basal lamina. Mutations in laminin-α2, integrin α7, and O-glycosyltransferases that glycosylate alpha-dystroglycan all can cause congenital muscular dystrophy (CMD). Furthermore, mutations in collagen (not shown), which binds alpha-dystroglycan through perlecan and other proteoglycans, can cause CMD. Mutations in dystrophin, the sarcoglycans, dysferlin, and caveolin-3 can also cause muscular dystrophies. Reprinted with permission from Cohn RD. Dystroglycan: important player in skeletal muscle and beyond. In: Neuromuscular Disorders. Vol. 15. Cohn RD. Elsevier; 2005: 207-17. 7, 20
 
 
 
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