Congenital Myopathies Treatment & Management

Updated: Mar 11, 2019
  • Author: Matthew Harmelink, MD; Chief Editor: Amy Kao, MD  more...
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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.

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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.

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Surgical Care

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.

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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

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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.

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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.

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