eMedicine Specialties > Neurology > Pediatric Neurology

Congenital Myopathies: Treatment & Medication

Author: Glenn Lopate, MD, Associate Professor, Department of Neurology, Division of Neuromuscular Diseases, Washington University School of Medicine; Chief of Neurology, St Louis ConnectCare, Consulting Staff, Barnes Jewish Hospital
Contributor Information and Disclosures

Updated: May 26, 2009

Treatment

Medical Care

  • No specific treatment is available for any of the congenital myopathies, but aggressive supportive care is essential to preserve muscle activity, to allow for maximal functional ability, and to prolong life expectancy.
  • The primary concerns affecting prognosis are preventing and correcting skeletal abnormalities (eg, scoliosis, foot deformities, contractures) to maintain ambulation, and to prevent or delay the development of respiratory insufficiency.
  • Respiratory failure due to diaphragmatic weakness can occur at any age and may be independent of the degree of limb weakness.
    • A restrictive pattern on pulmonary function tests (PFTs) may be apparent before the onset of symptoms.
    • Early symptoms of nocturnal hypoxia can include poor sleep, nightmares, morning headache, daytime sleepiness, and weight loss.
    • All patients should have baseline PFTs that are repeated in at least yearly intervals.
    • Treatment options include chest physiotherapy, manually assisted cough, early treatment of respiratory infections, noninvasive ventilation, and tracheostomy combined with permanent ventilation.
  • Skeletal abnormalities are frequent complications of patients with a congenital myopathy.
    • Treatment to prevent contractures includes aggressive use of passive stretching, exercise, bracing, and surgical release procedures; these allow the patient to remain independent for as long as possible.
    • The development of scoliosis or kyphosis may impede standing, sitting, walking, and respiratory function. Bracing or surgical correction with spinal fusion are treatment options.
  • The special concern of malignant hyperthermia in patients with central core disease (CCD) is discussed in Complications.
  • As for other hereditary myopathies, a team approach, including a neurologist, pulmonologist, cardiologist, orthopedic surgeon, physiatrist, physical/occupational therapist, orthotist, and counselors, ensures the best possible therapy.

Surgical Care

Orthopedic surgery may be needed to help correct or prevent contractures, foot deformities, and scoliosis. A gastrostomy tube may be needed for newborns who have persistent feeding difficulties, although many neonates improve and can tolerate bottle-feeding after a few months of gavage feeding.

Consultations

  • Orthopedic surgeon
  • Pulmonologist
  • Cardiologist
  • Gastroenterologist/dietician
  • Geneticist/genetic counselor
  • Physiatrist
  • Physical/occupational therapist
  • Orthotist
  • Muscular Dystrophy Association

Diet

While no dietary restrictions are indicated in the myopathies, the diet should be tailored to the caloric needs of the patient. This may include restricting calories, especially in children with minimal mobility.

Activity

As mentioned above, one of the main goals of treatment is maintaining ambulation and functional ability with the aggressive use of physical therapy and bracing. Children should attend school either in regular classes or in classes designed to meet their specific physical needs. Regular exercise helps with cardiovascular fitness and general well-being.

More on Congenital Myopathies

Overview: Congenital Myopathies
Differential Diagnoses & Workup: Congenital Myopathies
Treatment & Medication: Congenital Myopathies
Follow-up: Congenital Myopathies
Multimedia: Congenital Myopathies
References
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Further Reading

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Keywords

congenital myopathy, congenital myopathies, broad A-band disease, cap myopathy, central core disease, CCD, congenital fiber type disproportion, congential myopathy with apoptotic changes, congenital myopathy with mosaic fibers and interlacing sarcomeres, cylindrical spirals myopathy, fingerprint body myopathy, hyaline body (myosin storage) myopathy, lamellar body myopathy, multiminicore disease, myopathy with hexagonally cross-linked tubular arrays, myopathy with muscle spindle excess, myopathy with tubular aggregates, myotubular/centronuclear myopathy, nemaline (rod) myopathy, reducing body myopathy, sarcotubular myopathy, trilaminar fiber myopathy, zebra body myopathy, amyotonia congenita, benign congenital hypotonia, nemaline rod myopathy, myotubular myopathy, CNS disease

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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; Chief of Neurology, St Louis ConnectCare, Consulting Staff, 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, and Phi Beta Kappa
Disclosure: Nothing to disclose.

Medical Editor

Robert Baumann, MD, Child Neurology Program Director, Professor, Departments of Neurology and Pediatrics, University of Kentucky
Robert Baumann, MD is a member of the following medical societies: American Academy of Neurology, American Academy of Pediatrics, and Child Neurology Society
Disclosure: Nothing to disclose.

Pharmacy Editor

Francisco Talavera, PharmD, PhD, Senior Pharmacy Editor, eMedicine
Disclosure: eMedicine Salary Employment

Managing Editor

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, and Society for Neuroscience
Disclosure: Nothing to disclose.

Chief Editor

Amy Kao, MD, Assistant Professor, Department of Pediatrics, Division of Pediatric Neurology, Department of Neurology, Oregon Health and Science University; Consulting Staff, Shriners Hospital for Children
Amy Kao, MD is a member of the following medical societies: American Academy of Neurology, American Academy of Pediatrics, American Epilepsy Society, and Child Neurology Society
Disclosure: Nothing to disclose.

 
 
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