Synonyms Duchenne muscular dystrophy, Duchenne’s disease, Duchenne Muscular Dystrophy Summary Duchenne muscular dystrophy is the most common hereditary muscular dystrophy besides “myotonic dystrophy” and shows a marked muscular atrophy already in early childhood. This is caused by a mutation in the genetic blueprint for an important structural protein of the muscle, dystrophin. Because of the … Duchenne Muscular Dystrophy
Symptoms The affected children usually stand out due to delayed motor development: they move little, learn to walk with a delay, fall frequently and show themselves “clumsy”. After learning to walk, the calves often increase considerably in size, the reason for this is the pseudohypertrophy of the calf muscles outlined above. In the course of … Symptoms | Duchenne Muscular Dystrophy
Diagnosis Due to the defect of the muscle cell membrane, a strong increase of creatine kinase, an enzyme of the muscle, in the blood of those affected is already apparent from birth. The neurological examination shows a muscle weakness without sensory disturbances or muscle twitches, the reflexes are weak or extinguished. The EMG (electromyography) shows … Diagnosis | Duchenne Muscular Dystrophy
Prognosis The prognosis of the disease is still unfavorable: The life expectancy of affected persons is on average 20 – 40 years. All articles in this series: Duchenne Muscular Dystrophy Symptoms Diagnosis Prognosis
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)