Myopathy

Description:

Myopathies — the generalized name of a set of the diseases of muscular system (mainly, skeletal muscles) caused by disturbance of sokratitelny probability of muscle fibers and which are shown muscular weakness, reduction of volume of active movements, decrease in a tone, an atrophy, sometimes a pseudo-hypertrophy. Myopathies can proceed on atrophic, dystrophic, miotonichesky, metabolic and myasthenic types. Exact diagnosis of myopathies is difficult, in many cases the biopsy of muscles is necessary, practically in all cases the profound family anamnesis is obligatory. Classification of myopathies is tangled, many nosological units have eponymous, too general and partially coinciding names.

Myopathy symptoms:

- Similar for all inborn myopathies
- Children are born with a low muscle tone and weakness of facial muscles
- The disease traditionally does not progress or regress with age
- Sometimes respiratory insufficiency develops
- In the teenage period scoliosis, as a rule, develops.

Myopathy reasons:

Mitochondrial — various group of not often found diseases caused by defects of a mitochondrial and/or nuclear genome. Into the forefront the progressing muscular weakness and fatigue act, myocardial dystrophies, symptomatology from TsNS (a delay of psychomotor development, dementia, an intermittent coma, convulsive attacks) are frequent, and also symptoms of defeat of various bodies and systems. Diagnosis is complicated, surely includes a biopsy of muscles.
Not crimson — not progressing muscular weakness more often affecting proximal muscles. In muscle fibers characteristic rhabdoid and filamentary cores (elements of Z-lines). Synonyms: the myopathy which inborn is not progressing, a myopathy filamentary.
Late distal hereditary — distal departments of extremities are surprised more often, traditionally meets aged in an effect of 40 years. Synonyms: Goversa-Velander myopathy, Nevina myopathy.
Tsentronuklearny (miotubulyarny) — slowly progressing muscular weakness and an atrophy beginning at children's age; kernels of the majority of muscle fibers are localized preferential in the central part, than on the periphery of muscle fibers.
Disease of the central core — slowly progressing weakness of muscles; at a biopsy in a core of muscle fibers there are no mitochondrions and elements of a sarcoplasmic reticulum, activity of oxidizing enzymes, phosphorylases, Atfaza; myofibrils are located in the form of compact educations.
Mitochondrial entsefalomiopatiya — diverse group of diseases with the general morphological feature — disturbance of structure of mitochondrions in muscles and TsNS, but various molecular defects in the form of disturbances of transport of substrates from cytosol in a mitochondrion, utilization of substrates, structure of enzymes of a tricarbonic acid cycle, interface of oxidation and phosphorylation.

Treatment of the Myopathy:

In the first months of life of the child fight against respiratory frustration and food via the probe can be required.
Arises it is necessary будетсть in orthopedic correction, remedial gymnastics, physical therapy and rational employment later.