Synonyms Dystrophia myotonica, Curschmann disease, Curschmann-Steinert disease : Myotonic (muscular) Dystrophy. Introduction Myotonic dystrophy is one of the most common muscular dystrophies. It is accompanied by muscle weakness and atrophy, especially in the face, neck, forearms, hands, lower legs and feet. Characteristic here is the combination of the symptoms muscle weakness and delayed muscle relaxation … Myotonic dystrophy
Cause The cause of myotonic dystrophy is the lengthening of a section in chromosome 19 beyond a certain degree. This leads to a reduced production of a protein that is partly responsible for the stability of the muscle fiber membrane. The extent of elongation increases with inheritance from generation to generation and shows some correlation … Cause | Myotonic dystrophy
Differential diagnoses Depending on the prevailing symptoms, other myotonic diseases (delayed muscle relaxation) or other muscular dystrophies (muscle atrophy) may be considered as differential diagnoses. Furthermore, diseases of the nervous system can also lead to weakness and atrophy of the muscles controlled by the affected nerves. Diagnostics Clinically pioneering is the presence of myotonia (delayed … Differential diagnoses | Myotonic dystrophy
Synonyms Fazioscapulohumeral muscular dystrophy, FSHMD, muscular dystrophy Landouzy-Dejerine : FSH Dystrophy, Facioscapularhumeral (Muscular) Dystrophy. Facioscapulohumeral muscular dystrophy, often abbreviated FSHD, is the third most common form of hereditary muscular dystrophy. The name describes the early and particularly severely affected muscle areas: However, as the disease progresses, other muscle areas (leg, pelvic and trunk muscles) also … Fazioscapulohumeral Dystrophy (FSHD)
Prognosis As the disease only affects the skeletal muscles, the life expectancy of those affected is generally not limited. Due to the relatively slow progression of the disease, patients retain a good quality of life for a long time. The course of the disease varies greatly from patient to patient: while some patients remain almost … Prognosis | Fazioscapulohumeral Dystrophy (FSHD)
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 … Muscular dystrophy
Causes The causes of progressive muscle atrophy and weakness are congenital defects in the structure of the muscle cells and in muscle metabolism. In many cases of muscular dystrophies, however, the exact mechanism of the disease has not yet been clarified. Symptoms The affected persons are conspicuous by an increasing weakness of affected body parts, … Causes | Muscular dystrophy
Differential diagnoses Muscle weakness and atrophy can be symptoms of a number of other conditions that may need to be ruled out. These include above all: Diseases of the nerves and spinal cord, e.g. poliomyelitis (“polio”), amyotrophic lateral sclerosis or multiple sclerosis. The exclusion is based on clinical picture, measurement of nerve conduction velocity and … Differential diagnoses | Muscular dystrophy
Prognosis: The prognosis depends to a large extent on the involvement of the heart and respiratory muscles and thus varies considerably between the different muscular dystrophies. While e.g. Duchenne type Duchenne at a young age leads to death by cardiac insufficiency or respiratory tract infections, life expectancy is not limited in more benign forms. However, … Prognosis: | Muscular dystrophy
