New Guidelines for Congenital Muscular Dystrophy

muscular dystrophy
muscular dystrophy
The guidelines emphasize a multidisciplinary approach to the diagnosis and treatment of CMDs.

The American Academy of Neurology and the American Association of Neuromuscular and Electrodiagnostic Medicine have released new evidence-based guidelines for the evaluation, diagnosis, and management of congenital muscular dystrophy.

The subcommittee, after reviewing relevant research articles, concluded that a multidisciplinary team of health professionals is necessary to fully identify and treat the symptoms of congenital muscular dystrophy (CMD) and related health complications, including seizures and respiratory problems.

There are three major categories of CMDs commonly recognized, and many other rare forms. Recently, more than seven new genes have been associated with CMDs.  

Characterized by progressive skeletal muscle weakness and hypotonia, CMD subtype can usually be identified through clinical features, brain imaging findings, muscle imaging, and muscle biopsy findings, while genetic testing remains less reliable.

People with CMDs are often afflicted with a wide range of health complications, including cognitive impairment, respiratory complications, cardiac complications, feeding difficulties, scoliosis, and nutritional deficiencies.

In the event of caring for a patient with CMD, the subcommittee recommends that physicians make families aware of multisystem complications and direct them through the appropriate resources in order to achieve optimal care and quality of life for the patient, noting that certain CMD subtypes may require further evaluation and treatment for specific complications, especially those of cardiac nature.

Based on the research review, the subcommittee identified the following topics as priorities for future CMD research:

  1. Gene discovery in CMD
  2. Genotype–phenotype studies in CMDs, especially longitudinal studies
  3. Frequency and risk factors for various complications in CMDs
  4. The merits of various therapeutic interventions for CMDs


  1. Kang PB et al. Neurology. 2015; doi:10.1212/WNL.0000000000001416.