Muscular dystrophies are a group of inherited muscle disorders in which one or more genes Genes Genes are segments of deoxyribonucleic acid (DNA) that contain the code for a specific protein that functions in one or more types of cells in the body or the code for functional ribonucleic... read more needed for normal muscle structure and function are defective, leading to muscle weakness Weakness Weakness refers to loss of muscle strength. That is, people cannot move a muscle normally despite trying as hard as they can. However, the term is often misused. Many people with normal muscle... read more and muscle wasting (dystrophy) of varying severity.
Facioscapulohumeral muscular dystrophy (FSHMD) is inherited via an autosomal dominant gene Dominant x-linked disorders Genes are segments of deoxyribonucleic acid (DNA) that contain the code for a specific protein that functions in one or more types of cells in the body or code for functional RNA molecules.... read more . Therefore, a single abnormal gene is sufficient to cause the disorder, and the disorder can appear in either males or females. It is the third most common form of muscular dystrophy and occurs in about 4 to 12 out of 100,000 people.
Symptoms of Facioscapulohumeral Muscular Dystrophy
Symptoms of facioscapulohumeral muscular dystrophy usually begin gradually between the ages of 7 and 20. The facial and shoulder muscles are always affected, so a child has difficulty whistling, closing the eyes tightly, or raising the arms. Some people with the disorder also develop a footdrop (the foot flops down). People also frequently have hearing loss and eye problems.
The weakness is rarely severe, and many people are not disabled and have a normal life expectancy. However, other people need to use a wheelchair in adulthood. In one form that develops in infancy, children have rapidly progressive muscle weakness and severe disability.
Diagnosis of Facioscapulohumeral Muscular Dystrophy
The diagnosis of facioscapulohumeral muscular dystrophy is based on characteristic symptoms, the person's age when symptoms began, family history, and the results of genetic testing Genetic Counseling and Genetic Testing Before Pregnancy Genetic disorders are caused by abnormalities in one or more genes or chromosomes. Some genetic disorders are hereditary and others are spontaneous. Hereditary genetic disorders are passed down... read more .
Treatment of Facioscapulohumeral Muscular Dystrophy
There is no treatment for the weakness, but physical therapy Physical Therapy (PT) Physical therapy, a component of rehabilitation, involves exercising and manipulating the body with an emphasis on the back, upper arms, and legs. It can improve joint and muscle function, helping... read more may help maintain muscle function.
The following English-language resource may be useful. Please note that THE MANUAL is not responsible for the content of this resource.
Muscular Dystrophy Association: Information on research, treatment, technology, and support for people living with facioscapulohumeral muscular dystrophy