Synonyms
Muscular atrophy, progressive muscular dystrophy; Duchenne muscular dystrophy, Becker-Kiener dystrophy, myotonic dystrophy, Fazio-Scapulo-Humeral muscular dystrophy, FSHD
Summary
Muscular dystrophies are congenital diseases of the musculature, which lead to a progressive loss of muscle mass and increasing weakness through a disturbance in the structure and/or metabolic processes of the muscles. To date, more than 30 different forms of muscular dystrophy are known, some of which differ significantly in their predominant symptoms, frequency, course and prognosis. For many muscular dystrophy diseases, the underlying genetic defect is known, which makes genetic diagnosis (examination of the genetic material) possible. A causal therapy for muscular dystrophy does not exist so far. Therefore, symptomatic therapies are in the focus of attention, which should mitigate the consequences of the disease and improve the quality of life of the affected persons.
Definition
The term muscular dystrophy is used to describe congenital diseases of the musculature that lead to a progressive loss of muscle mass and number and are conspicuous by weakness of the affected muscle groups (muscular atrophy). To date, more than 30 different forms of muscular dystrophy are known, which differ in inheritance, affected muscle groups, onset of symptoms and severity of clinical course. In some muscular dystrophies, the heart muscles are also affected.
Forms of muscular dystrophy and characteristics
- Type Duchenne: Early onset, infestation of the heart muscles, severe course, most frequent form, almost exclusively boys affected.
- Type Becker-Kiener: Similar symptoms as in Duchenne muscular dystrophy, but later onset, somewhat milder course, also almost exclusively boys affected
- Fazio-Scapulo-Humeral Muscular Dystrophy: Mild form, onset in young adulthood, initially affects the muscles of the shoulder girdle and face, men and women are equally affected.
Frequency
Overall, the frequency of muscular dystrophies is estimated to be between 1:2000 and 1:5000, with the individual muscular dystrophy diseases showing differences in heredity and frequency in the population. Of the above mentioned, Duchenne (about 1:5000) and Becker-Kiener muscular dystrophy (about 1:60000) belong to the x-linked recessive diseases and therefore almost exclusively affect boys and men, respectively. The Fazio-Scapulo-Humeral Muscular Dystrophy (approx. 1:20000), on the other hand, is inherited autosomal-dominantly, therefore men and women are affected equally often.
