Aspire Educational Series: Distal Muscular Dystrophy- Party 19

Distal myopathy or distal muscular dystrophy (DD) is a general term for a group of rare progressive genetic disorders characterized by wasting (atrophy) and weakness of the voluntary distal muscles in the extremities, particularly in the hands, feet, lower legs, and lower arms. Although the age of onset can occur anytime from infancy to adulthood, most forms develop later in life between ages 40 and 60 and are slowly progressive. DD affects both men and women.

The causes of Distal muscular dystrophy are difficult to determine.This is because it is a genetic disorder that can be a result of a mutation in any one of eight different genes. The disease can be inherited either from a single parent or from both the parents.In this condition, it can be dominant or recessive. The latter means that the person will not exhibit any symptoms. It can be a result of a dominant or a recessive gene present in one or both the parents.

There are different types of distal muscular dystrophy which include:

Since no distal myopathy has been linked to the X-chromosome, distal myopathies affect males and females in equal numbers. The exact incidence of the distal myopathies is unknown. Some forms have been identified with greater frequency in certain populations. Udd distal myopathy occurs with greater frequency in Finland where the prevalence is estimated to be 7 in 100,000 individuals. Welander distal myopathy occurs with greater frequency in Sweden where the prevalence is estimated to be 1 in 1,000 individuals. Approximately 220 cases of IBM2 have been identified in the medical literature. The muscular dystrophies as a whole are estimated to affect 250,000 individuals in the United States. The estimated prevalence of distal myopathy in the northern region of England is 1/300,000.

To diagnose distal muscular dystrophy, physicians carry out extensive tests. The first step is a thorough family history and physical examination. Blood serum analysis, CT scans, and MRIs may be advised. Genetic studies in the form of gene mapping may be ordered to understand the level of mutation better. Once the level of mutation and its severity has been identified, the patient can then be classified as one of the many types of Distal Muscular dystrophies. A serum protein assay could show elevated serum Creatine Kinase (often referred as CK). Sometimes a muscle biopsy is recommended.

There is no cure for DD. But supportive care can help keep the patient’s strength and flexibility. Physical therapy is important to keep the range of motion. Occupational therapy can help with ways to adapt to activities such as eating, walking, or computer use. Respiratory and cardiac care us recommended. Certain aids may improve the quality of life including:


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