DISEASE SCANNER

Global Incurable Diseases Tracker

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Genetic Disorder

Facioscapulohumeral Dystrophy (FSHD)

MODERATE

The third most common muscular dystrophy, characterized by progressive weakness of facial, scapular, and humeral muscles. Caused by abnormal expression of DUX4 gene due to contraction of D4Z4 repeats. Variable severity even within families.

Global Affected

1.0M

Countries

15

Symptoms

Facial weakness (difficulty closing eyes, whistling)
Scapular winging
Shoulder weakness
Foot drop (later)
Hearing loss
Retinal vasculopathy
Pain

Treatment Options

Genetic counseling
Supportive care
Symptom management
Enzyme replacement (if applicable)
Physical therapy
Regular monitoring
Multidisciplinary care

Risk Factors

1Family history
2Genetic mutations
3Consanguinity
4Advanced paternal age
5Ethnic predisposition

Diagnostic Methods

  • 1Genetic testing
  • 2Clinical evaluation
  • 3Family history assessment
  • 4Specialized laboratory tests
  • 5Imaging studies
  • 6Biopsy (if applicable)

Prognosis

Slowly progressive over decades. Most remain ambulatory throughout life. Life expectancy usually normal. Some subtypes have more rapid progression.

Prevention

  • Genetic counseling
  • Carrier screening
  • Prenatal diagnosis
  • Preimplantation genetic diagnosis
  • Family planning

Research Status

Losmapimod (p38 MAPK inhibitor) in phase 3 trials. Supportive care: scapular fixation surgery, ankle-foot orthoses, respiratory support. No approved disease-modifying therapy yet. Variable prognosis; most have normal lifespan.

Affected Countries

United StatesUnited KingdomCanadaAustraliaGermanyFranceItalySpainJapanBrazilMexicoNigeriaSouth AfricaIndiaChina

Sources

  • https://www.ncbi.nlm.nih.gov/books/NBK1116
  • https://medlineplus.gov/genetics
  • https://rarediseases.org

Medical Disclaimer

This information is for educational purposes only. Always consult healthcare professionals for medical advice, diagnosis, and treatment.