eMedicine Specialties > Neurology > Pediatric Neurology

Congenital Myopathies: Follow-up

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

Follow-up

Further Inpatient Care

  • Neonates with a congenital myopathy with severe weakness and hypotonia may need prolonged hospitalization for respiratory insufficiency and feeding difficulties. If the disease is nonprogressive, support can often be successfully withdrawn as symptoms improve.
  • Older children may need admission for surgical care or cardiopulmonary complications.

Further Outpatient Care

  • In patients with a congenital myopathy, assess the following at least yearly:
    • Muscle function
    • Contractures
    • Ability to perform activities of daily living
    • Cardiopulmonary function

Complications

  • Patients with central core disease (CCD) (less frequently with multicore disease) are inclined to develop malignant hyperthermia. However, since the precise diagnosis may not be known, precautions should be taken in all patients with a presumed diagnosis of congenital myopathy. General anesthesia usually triggers a full-blown episode, but excessive heat, neuroleptic drugs, alcohol, or infections may trigger milder episodes.
    • If surgery is required, these patients (and their relatives) should avoid inhaled anesthetics (except nitrous oxide) and succinylcholine.
    • Signs and symptoms of malignant hyperthermia include the following:
      • Elevated pCO2
      • Muscle rigidity
      • Tachycardia
      • Hemodynamic instability
      • Hyperventilation
      • Cyanosis
      • Lactic acidosis
      • Fever
      • Hyperkalemia
      • Hypercalcemia
      • Myoglobinuria
    • Death may result from pulmonary edema, coagulopathy, ventricular fibrillation, cerebral edema, or renal failure.
    • Appropriate treatment includes the following:
      • Stopping inhalational anesthetics or succinylcholine
      • Hyperventilating the patient with 100% oxygen
      • Administering dantrolene up to 10 mg/kg
      • Providing bicarbonate for metabolic acidosis
      • Cooling the patient
      • Monitoring for arrhythmias and hyperkalemia
      • Maintaining urine output over 2 mL/kg/h
      • Avoiding calcium antagonists and beta-blockers
      • Monitoring in an ICU for 24-48 hours
  • Cardiac involvement can occur in patients with congenital myopathies, especially nemaline myopathy, CCD, and multiminicore disease.
  • Pulmonary insufficiency can occur in any form of congenital myopathy that presents with severe neonatal hypotonia. It is more common or more severe in nemaline myopathy, X-linked and autosomal myotubular/centronuclear myopathy, multiminicore disease, and reducing body myopathy. This is especially important to assess before surgery since postoperative respiratory failure can occur.
  • Skeletal deformities, including contractures and scoliosis, are common in patients with most of the congenital myopathies.
  • Obstetric complications during childbirth are uncommon in mothers with congenital myopathy. However, neonatal complications can include polyhydramnios; decreased fetal movements; or complications related to fetal distress, abnormal presentation, failure to progress, or prematurity.

Prognosis

  • The prognosis depends on the form of congenital myopathy.
    • Severe disease often results in death in the neonatal period.
    • Less severe disease can result in lifelong disability.
    • Milder forms of congenital myopathy may result in only minor disability with a relatively normal life expectancy.

Patient Education

  • Genetic counseling is often helpful to assist patients with family-planning decisions. However, definitive prenatal diagnosis is only possible if a disease-causing mutation has been identified. Genetic counseling is especially important for families of patients with CCD to avoid unexpected cases of malignant hyperthermia in asymptomatic relatives.

Miscellaneous

Medicolegal Pitfalls

  • Creatine kinase level in the reference range and normal EMG findings do not rule out the presence of a congenital myopathy; a biopsy is almost always indicated.
  • Because the diagnosis of congenital myopathy is often difficult, a clinician experienced in the diagnosis and treatment of neuromuscular diseases should interpret the findings of laboratory tests (ie, creatine kinase level), electrodiagnostic studies, and muscle biopsies.

Special Concerns

 


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, 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, American College of Epidemiology, American Epilepsy Society, and Child Neurology Society
Disclosure: Nothing to disclose.

Pharmacy Editor

Francisco Talavera, PharmD, PhD, Senior Pharmacy Editor, eMedicine
Disclosure: Nothing to disclose.

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.

CME Editor

Matthew J Baker, MD, Consulting Staff, Collier Neurologic Specialists, Naples Community Hospital
Matthew J Baker, MD is a member of the following medical societies: American Academy of Neurology
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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