Sections

Treatment

Approach Considerations

Currently, there is no genetic cure for any congenital myopathy. As such, treatment remains focused on symptomatic treatment from therapy, medical, surgical, and psychologic perspectives.

Medical Care

The focus on treatment of the congenital myopathies is to evaluate and slow the progression of symptoms while maintaining activities of daily living.

Muscle treatment

The treatment of muscle weakness revolves around stretching, bracing, and supportive care. Contractures can severely limit activities of daily living. Given this, involvement of physical therapy for both stretching and appropriate bracing is needed. However, depending upon the pathophysiology of the disease, bracing is sometimes contraindicated as imobility can result in worsening weakness. In some cases, where the weakness is severe enough, there may be a need for assistive devices including wheelchairs or similar mobility devices.

Pulmonary treatment

Each congenital myopathy can have a varied degree of respiratory involvement secondary to the pulmonary components of the disease; being aware of signs is relevant. Neuromuscular weakness is often more prevelant during sleep. As such, evaluation of signs of hypoventilation at night, including morning headaches, snoring, or daytime sleepiness, should be undertaken. In infants, respiratory support for frequent or prolonged respiratory illnesses may be needed.

Based upon the subtype, the degree of limb weakness does not always correlate to the severity of respiratory weakness. As such, when respiratory involvement is suspected, it may be helpful to consult a pulmonologist and perform pulmonary function tests (if appropriate for the patient's age). Commonly, patients will have a restrictive pattern of lung disease.

Cardiac treatment

In cases of known genes with cardiac involvement, cardiac care based on subtype should be followed. This may involve pre-symptomatic screening to evaluate the need for early interventions.

Orthopedic treatment

Skeletal abnormalities are frequent complications of patients with a congenital myopathy. As such, contracture prevention, as noted above, should be considered. The development of scoliosis or kyphosis may impede standing, sitting, walking, and respiratory function. Treatment options include bracing or surgical correction with spinal fusion. Timing of scoliosis correction is important given the possible underlying respiratory weakness.

Orthopedic surgery

Surgery for treatment of contractures, foot deformities, and scolioisis is most common.

Gastroinestinal system

A gastrostomy tube is sometimes needed for newborns with feeding difficulties. However, given the trend for many babies to improve over months to a few years, this is not necessarily a permanent issue.

Pulmonary system

As with the gastrointestinal system, infants can require tracheostomy early on after birth for airway protection. However, they may be able to be decannulated after months to years due to improvements. This course is dictated by the subtype of disease.

Consultations

Treatment of congenital myopathies, at any age, requires a multidisciplinary team. Typically, the neuromuscular physician will lead the team with other consultants based upon the patient's needs. The other team members may include:

Orthopedic surgeon
Pulmonologist
Cardiologist
Gastroenterologist/dietician
Geneticist/genetic counselor
Physiatrist
Physical/occupational/speech therapists
Orthotist
Palliative care physician
Muscular Dystrophy Association or advocacy organization member

Diet

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

Weight may not follow the growth curve or may be low given a lack of muscle mass.

Activity

Activity level is based upon the combination of muscle weakness, respiratory concerns, and orthopedic restrictions. However, one of the main goals is to have continued functional ability.

For children, regular school attendance should be encouraged with modified educational plans for their needs. As able, patients can participate in regular physical activity.

Follow-up

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Central core disease, nicotinamide adenine dinucleotide (NADH) stain. In the central core, mitochondria and oxidative enzymes are absent. Cores are also present on cytochrome oxidase and succinate dehydrogenase (SDH) stains.
Nemaline rod myopathy, Gomori trichrome (GT) stain. Dark blue structures are seen only with this stain. They contain Z disk material, including alpha-actinin and tropomyosin.
Centronuclear myopathy, hematoxylin and eosin stain. Note the numerous, centrally placed nuclei. Normal nuclei are at the periphery of the muscle fiber.
Tubular aggregates, nicotinamide adenine dinucleotide (NADH) stain. Cytoplasmic collections of membranous tubules (derived from the sarcoplasmic reticulum) can be present in various myopathies, including myopathy with tubular aggregates, hypokalemic periodic paralysis, malignant hyperthermia, myotonia congenita, and ceratin toxic myopathies.

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Author

Matthew Harmelink, MD Associate Professor of Neurology, Heidi-Marie Baumann Chair in Child Neurology, Section Chief and Medical Director, Child Neurology Section, Director, Pediatric Neuromuscular Program, Co-Director, Neurogenetics Clinic, Medical College of Wisconsin and Children’s Hospital of Wisconsin

Matthew Harmelink, MD is a member of the following medical societies: American Academy of Neurology, American Association of Neuromuscular and Electrodiagnostic Medicine

Disclosure: Serve(d) as a director, officer, partner, employee, advisor, consultant or trustee for: Three Gaits, Inc (Non-profit therapeutic riding stable)<br/>Serve(d) as a speaker or a member of a speakers bureau for: Biogen<br/>Received research grant from: CureSMA<br/>Received income in an amount equal to or greater than $250 from: Biogen (Consultant, Advisory Board); Avexis (Advisory Board); PTC (Advisory Board); Sarepta (Advisory Board); Connected Research & Consulting (Consulting); Optio Biopharma Solutions, LLC (Consulting).

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 (managed by a financial services company) in healthcare companies including Allergan, Cellectar Biosciences, CVS Health, Danaher Corp, Johnson & Johnson.

Additional Contributors

Glenn Lopate, MD Associate Professor, Department of Neurology, Division of Neuromuscular Diseases, Washington University in St Louis 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.

Robert J Baumann, MD Professor of Neurology and Pediatrics, Department of Neurology, University of Kentucky College of Medicine

Robert J Baumann, MD is a member of the following medical societies: American Academy of Neurology, American Academy of Pediatrics, Child Neurology Society

Disclosure: Nothing to disclose.

Congenital Myopathies Treatment & Management

Approach Considerations

Medical Care

Muscle treatment

Pulmonary treatment

Cardiac treatment

Orthopedic treatment

Surgical Care

Orthopedic surgery

Gastroinestinal system

Pulmonary system

Consultations

Diet

Activity

Congenital Myopathies Treatment & Management

Approach Considerations

Medical Care

Muscle treatment

Pulmonary treatment

Cardiac treatment

Orthopedic treatment

Surgical Care

Orthopedic surgery

Gastroinestinal system

Pulmonary system

Consultations

Diet

Activity

References

Tables

Contributor Information and Disclosures

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