Facioscapulohumeral muscle dystrophy

Facioscapulohumeral muscular dystrophy (FSHD) is a genetic muscle disorder that primarily affects the muscles of the face, shoulder blades and upper arms.

It is characterized by gradual muscle weakening and wasting, which can lead to a range of symptoms and challenges for those affected.

FSHD is caused by a genetic mutation in either the DUX4 or SMCHD1 gene, which leads to the production of a toxic protein in muscle cells.

This protein disrupts the normal functioning of muscle cells and gradually weakens the affected muscles.

Common symptoms include weakness and wasting of facial muscles, resulting in a mask-like appearance,shoulder blade weakness causing winging, difficulty raising the arms, and decreased strength in the upper arms.

Some individuals may also experience hearing loss and problems with their respiratory or cardiac muscles, although these are less common.

It typically presents in late childhood to early adulthood, but the age of onset and severity can vary.

In some cases, symptoms may start earlier or later in life.

Diagnosis of FSHD usually involves a combination of clinical symptoms, medical history, genetic testing, and sometimes electromyography or muscle biopsy.

A genetic test can detect the specific mutation causing FSHD in most cases.

There is currently no cure for FSHD, management usually focuses on improving quality of life and managing symptoms.

Such efforts involve physical therapy to maintain muscle strength and mobility, assistive devices to aid in daily activities, respiratory support when necessary, and regular monitoring of potential complications.

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