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Facioscapulohumeral Dystrophy

An autosomal-dominant muscular dystrophy involving the face, shoulders, and upper arms.

Written by: Saygı Hospital Health Guide Editorial Board
Last updated:

This content has been compiled by the Saygı Hospital Health Guide Editorial Board and is periodically reviewed by a specialist physician.

This content is for informational purposes only and does not constitute medical advice. You can book an appointment at our Nöroloji department. Book Appointment →

What is Facioscapulohumeral Dystrophy?

FSHD is the third most common form of inherited muscular dystrophy in adults, with a prevalence of 1/8,000-1/20,000; type 1 (95%) is caused by D4Z4 repeat contraction on chromosome 4q35, type 2 (5%) by SMCHD1 mutation.

Onset is usually in adolescence or young adulthood with asymmetric weakness of facial, scapular, and upper-arm muscles. Pelvic girdle and lower extremity weakness develop later, and 20% become wheelchair-dependent.

It carries a risk of retinal vasculopathy (Coats syndrome), high-frequency hearing loss, and rarely cardiac and respiratory involvement. There is no specific treatment; the FORWARD-3 study with losmapimod is promising. Symptomatic, supportive care and physical therapy are mainstays.

Symptoms

Asymmetric facial weakness (closing eyes, whistling)
Scapular winging
Difficulty raising arms above the head
Difficulty drinking through a straw, smiling weakness
Foot drop (later phase)
Pelvic girdle weakness (later)
High-frequency hearing loss

Risk Factors

Family history (autosomal dominant)
D4Z4 repeat contraction (chromosome 4q35)
SMCHD1 gene mutation (type 2)
Permissive 4qA polymorphism
Adolescent or young adult age
May progress more rapidly in men
Penetrance is age-related

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

  • Asymmetric weakness in facial muscles
  • Difficulty raising arms
  • Inability to close the eyes during sleep
  • Family history of muscular dystrophy
  • Foot drop and tripping

Treatment Methods

01
Genetic testing (D4Z4 contraction analysis)
02
Annual cardiac evaluation
03
Pulmonary function tests
04
Physical therapy and stretching
05
Foot orthoses
06
Scapulopexy (selected patients)
07
Annual ophthalmologic evaluation (Coats)

Which Department to Visit?

You can visit our Nöroloji department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

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Let us help you

You can make an appointment with our specialists or contact us for your concerns.

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Health Disclaimer: The information on this page is prepared for general informational purposes only. It does not replace medical diagnosis and treatment. Please consult your physician for your complaints. Saygı Hospital does not accept responsibility for actions taken based on the information on this page.