Facioscapulohumeral muscular dystrophy

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Facioscapulohumeral muscular dystrophy
Synonyms	FSHD, Landouzy-Dejerine muscular dystrophy
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Specialty	Neurology, Genetics
Symptoms	Muscle weakness, Facial muscle weakness, Scapular winging, Foot drop
Complications	N/A
Onset	Typically adolescence or early adulthood
Duration	Lifelong
Types	FSHD1, FSHD2
Causes	Genetic mutation on chromosome 4 (FSHD1), SMCHD1 mutation (FSHD2)
Risks	Family history
Diagnosis	Genetic testing, Muscle biopsy
Differential diagnosis	Limb-girdle muscular dystrophy, Myotonic dystrophy
Prevention	N/A
Treatment	Physical therapy, Orthotic devices, Surgical intervention
Medication	Pain management, Anti-inflammatory drugs
Prognosis	Variable, generally slowly progressive
Frequency	1 in 20,000
Deaths	N/A

Facioscapulohumeral muscular dystrophy (FSHD) is a genetic muscle disorder characterized by progressive skeletal muscle weakness. It primarily affects the muscles of the face, shoulder blades, and upper arms.

Signs and Symptoms

FSHD symptoms typically begin in adolescence or early adulthood. Common signs include:

• Weakness in the facial muscles, leading to difficulty with facial expressions.
• Scapular winging due to weakness in the shoulder girdle muscles.
• Weakness in the upper arm muscles, affecting the ability to lift objects.
• As the disease progresses, it may also affect the abdominal muscles and lower limb muscles.

Genetics

FSHD is usually inherited in an autosomal dominant pattern. It is associated with a genetic mutation on chromosome 4, specifically a contraction of the D4Z4 repeat region. There are two main types of FSHD:

• FSHD1: Caused by a contraction of the D4Z4 repeat on chromosome 4q35.
• FSHD2: Involves mutations in the SMCHD1 gene, which affects the same region.

Diagnosis

Diagnosis of FSHD is based on clinical evaluation, family history, and genetic testing. Electromyography (EMG) and muscle biopsy may also be used to assess muscle function and structure.

Management

There is currently no cure for FSHD, but management focuses on maintaining muscle function and quality of life. Treatment options include:

• Physical therapy to improve muscle strength and flexibility.
• Occupational therapy to assist with daily activities.
• Use of orthotic devices to support weakened muscles.
• Pain management strategies, including medications and lifestyle modifications.

Research

Ongoing research aims to better understand the genetic mechanisms of FSHD and develop targeted therapies. Clinical trials are exploring potential treatments, including gene therapy and myostatin inhibitors.

Facioscapulohumeral muscular dystrophy images

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  Facioscapulohumeral muscular dystrophy
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  Facioscapulohumeral muscular dystrophy

See Also

• Muscular dystrophy
• Genetic disorders
• Neuromuscular diseases

External Links

• [FSHD Society](https://www.fshdsociety.org/)
• [Muscular Dystrophy Association](https://www.mda.org/)