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Facioscapulohumeral Muscular Dystrophy (FSHD)

Overview

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

  • FSHD 1
  • FSHD 2

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

The symptoms of FSHD may appear in adolescence or early adulthood and gradually worsen with time. They include:

  • Muscle weakness and wastage, especially in the face, upper arms, and shoulders
  • Facial weakness manifesting as difficulty in closing eyelids, pursing of lips, and raising corners of the mouth
  • Weakness of the shoulders with winging of scapula
  • Abdominal protuberance and lumbar hyperlordosis (inward curve of lower spine)
  • Foot drop (difficulty lifting the front part of the foot while walking)
  • Muscle pain
  • Hearing loss (occasionally)

FSHD is a genetic disorder most commonly inherited in an autosomal dominant pattern (a child has a 50% chance of inheriting the condition if one parent has it). You may be at a higher risk if you have:

  • Family history of FSHD
  • New mutations (even without family history)
  • Rare chromosomal changes such as Monosomy 18p

Diagnosis is made through:

  • Clinical history and examination to assess muscle weakness pattern
  • Genetic testing to identify genetic mutations

There is no cure for FSHD, but treatment focuses on maintaining mobility and function:

  • Physical therapy to maintain strength and flexibility
  • Bracing and reconstructive surgery to support weak muscles and improve posture
  • Assistive devices such as wheelchairs or splints
  • Respiratory and cardiac monitoring as part of long-term care

Consult a doctor if you or your child develops:

  • Progressive muscle weakness (especially in face or shoulders)
  • Difficulty raising arms, smiling, or closing eyes
  • Changes in walking pattern, such as tripping or foot drop

There is no known way to prevent FSHD. However, genetic counselling can help families understand inheritance patterns and risks.

For diagnosis and management of epilepsy, consult a Neurologist (specialist in brain and nerve disorders).

Disclaimer:

The information in this Health Library is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always consult a qualified healthcare professional with any questions about a medical condition or before starting any treatment. Use of this site and its content does not establish a doctor–patient relationship. In case of a medical emergency, call your local emergency number or visit the nearest emergency facility immediately.