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Benign Scapuloperoneal Muscular Dystrophy with Early Contractures

Last updated June 22, 2020

Approved by: Maulik P. Purohit MD, MPH

Emery-Dreifuss Muscular Dystrophy (EDMD) is a rare, progressive condition which affects the skeletal muscles (voluntary muscles used for movement) and the cardiac (heart) muscles.

The topic Benign Scapuloperoneal Muscular Dystrophy with Early Contractures you are seeking is a synonym, or alternative name, or is closely related to the medical condition Emery-Dreifuss Muscular Dystrophy.

Quick Summary:

  • Emery-Dreifuss Muscular Dystrophy (EDMD) is a rare, progressive condition which affects the skeletal muscles (voluntary muscles used for movement) and the cardiac (heart) muscles
  • The earliest features of the disorder are muscle contractures (permanent shortening of the muscle) and restricted movements of the joints (at the elbows, ankles, and neck)
  • In almost all individuals, heart anomalies such as irregular heart rhythms also develop due to abnormalities in the electrical signaling
  • The only risk factor for Emery-Dreifuss Muscular Dystrophy is a family history of the disorder. The disorder is caused by mutation in two genes, one being LMNA gene and the other, EMD gene
  • The common signs and symptoms associated with Emery-Dreifuss Muscular Dystrophy are contractures in the elbow, spine, and ankle, weakness of the muscles of the arms and lower legs, and heart conduction abnormalities
  • The diagnosis of this genetic disorder includes a complete medical history, a thorough physical exam and tests such as electromyography and muscle biopsy
  • There is no definitive treatment and prevention of Emery-Dreifuss Muscular Dystrophy. The management is aimed more at treating the symptoms and controlling the complications (if any)
  • The prognosis depends on the severity of the muscle contractures and the degree of cardiac involvement

Emery-Dreifuss Muscular Dystrophy is a genetic disorder caused by mutation in certain genes. There are 3 different inherited types of this disorder:

  • X-linked (caused by mutation in the EMD gene): If the mother is affected and the father is not, then the male offspring is affected and the female offspring are carriers. X-linked is the most common form, affecting an estimated 1 per 100,000 individuals
  • Autosomal dominant (caused by mutation in the LMNA gene): 76% of the individuals affected by Emery-Dreifuss Muscular Dystrophy acquire a new mutation in this LMNA gene with no history of disorder in the family. There are varied case reports that exist for autosomal dominant Emery-Dreifuss Muscular Dystrophy. The current prevalence is unknown
  • Autosomal recessive type: Both parents must either be carriers or be affected in order for the child to be affected. Autosomal recessive is the rarest of the three types. There are very few cases worldwide 

Please find comprehensive information on Emery-Dreifuss Muscular Dystrophy regarding definition, distribution, risk factors, causes, signs & symptoms, diagnosis, complications, treatment, prevention, prognosis, and additional useful information HERE.

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Reviewed and Approved by a member of the DoveMed Editorial Board
First uploaded: June 4, 2017
Last updated: June 22, 2020