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Facioscapulohumeral muscular dystrophy (FSHD)

Overview

FSHD, a neuromuscular disease, is a type of progressive muscular dystrophy that causes weakness and degeneration of muscles. FSHD typically involves face, shoulders and upper arms and may be asymmetrical. It is a progressive disease, but the progression rate and the degree of disability varies with individuals. However, it does not shorten the life span.

Genetic disorder inherited in an autosomal dominant pattern

  • Family history
  • New mutations
  • Monosomy 18p

  • Muscle weakness and wastage especially in the face, upper arms, and shoulders
  • Facial weakness manifesting as difficulty in closing eye lids, pursing of lips, and raising corners of the mouth
  • Weakness of shoulders with winging of scapula
  • Abdominal protuberance and lumbar hyperlordosis
  • Foot drop
  • Muscle pain
  • Hearing loss (occasionally)

Neurologist

  • Clinical history and examination
  • Genetic testing to identify genetic mutations

  • FSHD 1
  • FSHD 2

The two types have the same signs and symptoms and are distinguished by their genetic cause.

  • Physical therapy, bracing and reconstructive surgery
  • Assistive devices such as wheelchairs or splints
  • Respiratory and cardiac monitoring

Disclaimer:

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