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Facioscapulohumeral Muscular Dystrophy (FSHD)

Genetic muscular dystrophy primarily affecting facial, shoulder, and upper arm muscles with characteristic asymmetric pattern

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.

References (5)

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 Muscular Dystrophy (FSHD)?

FSHD has prevalence of approximately 1 in 8,000-20,000.

Two genetic forms: FSHD1 (95 percent) - contraction of D4Z4 repeats on chromosome 4q35; FSHD2 (5 percent) - SMCHD1 gene mutations with permissive 4qA haplotype.

Pathophysiology involves aberrant expression of DUX4 transcription factor in skeletal muscle, normally silenced.

Autosomal dominant inheritance with variable penetrance and severity.

Onset typically in second decade but ranges from infancy to adulthood; infantile-onset more severe.

Distinct asymmetric pattern: scapular winging, facial weakness, abdominal weakness with positive Beevor sign.

Symptoms

Facial weakness: difficulty whistling, drinking through straw, smiling, eye closure, sleeping with eyes open.
Scapular winging - prominent shoulder blades, difficulty raising arms above head.
Asymmetric weakness (often more severe on one side).
Abdominal muscle weakness with positive Beevor sign (umbilical movement on neck flexion).
Foot drop, leg weakness in advanced disease.
Extra-muscular features: high-frequency hearing loss (75 percent), retinal vasculopathy/Coats disease (rare), mild restrictive lung disease in 10-15 percent.

Risk Factors

Family history of FSHD (autosomal dominant, but de novo mutations in 10-30 percent).
D4Z4 repeat contraction (1-10 repeats) on permissive 4qA haplotype.
SMCHD1 mutations (FSHD2) with 4qA haplotype.
Larger D4Z4 contractions (1-3 repeats) associated with earlier onset and more severe disease.
Infantile FSHD with hearing loss, retinopathy, intellectual disability.
Compound heterozygotes (FSHD1 + FSHD2) typically have severe phenotype.

When to See a Doctor?

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

  • Progressive shoulder weakness, scapular winging, difficulty with overhead tasks.
  • Facial weakness: smile asymmetry, sleeping with eyes partially open.
  • Family history of FSHD - genetic counseling and testing.
  • Hearing concerns - audiology assessment recommended in all patients.
  • Vision changes - retinal evaluation, especially in severe cases.
  • Respiratory symptoms (rare) - pulmonary function testing if exertional dyspnea.

Treatment Methods

01
No disease-modifying therapy currently approved; investigational therapies targeting DUX4 in clinical trials.
02
Diagnostic confirmation: genetic testing (Southern blot or molecular combing for D4Z4; SMCHD1 sequencing).
03
Multidisciplinary management: neurology, physiatry, physical therapy, occupational therapy.
04
Physical therapy: aerobic and moderate resistance exercise (avoid eccentric overload), stretching, postural training.
05
Assistive devices: ankle-foot orthoses for foot drop, scapular fixation orthoses, mobility aids.
06
Surgical scapulopexy or scapulodesis for severe scapular winging in selected patients.
07
Annual audiology, baseline retinal exam, pulmonary function tests, cardiac evaluation if symptoms.
08
Genetic counseling for family planning; prenatal diagnosis available.

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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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.