Facioscapulohumeral muscular dystrophy

Facioscapulohumeral muscular dystrophy (FSH or FSHD) is a genetic condition that causes progressive muscle weakness, particularly in the face, shoulders and upper arms. The degree to which each area is affected can vary significantly between individuals. It is also common for the muscles that lift the foot during walking to weaken, resulting in foot drop.

The condition affects both males and females equally. Although FSHD is present from birth, symptoms often don’t appear until adolescence or adulthood, when mobility may begin to decline. In some cases, childhood-onset occurs and is usually more severe.

The name comes from the Latin and anatomical terms for the muscle groups most affected – facies (face), scapula (shoulder blade) and humerus (upper arm).

Symptoms

Symptoms vary between individuals but commonly include:

Asymmetrical muscle weakness on the left and right sides of the body
Shoulder blade “winging” due to weakness in shoulder and upper back muscles
Difficulty lifting arms above shoulder height
Weakness in facial muscles, such as trouble smiling, whistling or drinking through a straw
Inability to fully close the eyes, especially during sleep, which can cause dry eyes or other eye issues
Weakness in the hips, legs and feet, leading to difficulty walking or rising from a seated position
Foot drop (difficulty lifting the front part of the foot while walking)
Progression of weakness that may lead to the need for walking aids or a wheelchair
Less commonly, childhood or infant onset with faster and more severe progression
Possible hearing loss or vision problems, particularly in early-onset cases

FSHD is classified into two types – Type 1 and Type 2 – based on the affected gene and pattern of inheritance. The symptoms of both types are so similar that a genetic test is required to confirm the type.

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Medical Alert Cards

Muscular Dystrophy Queensland has created condition-specific alert cards for the most diagnosed muscle-wasting conditions.

These cards mean that people living with muscle wasting conditions and their families will have the security of knowing they can easily inform emergency health care professionals of the vital and specific issues that affect children and adults with these conditions.

Order our Medical Alert Card for Facioscapulohumeral muscular dystrophy today

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