Inborn myatonia (Tomsen's disease)

Description:

The inborn myatonia (Leyden-Tomsen's disease) is for the first time described by Leiden in 1874 Mr. Tomsen in 1876 paid attention to the hereditary nature of a disease on the example of the family (children and many ро dstvennik – the 20th member in his families in 4 generations suffered from a myatonia).

Often that 0,3–0,7 on 100 000 population.

Reasons of an inborn myatonia:

It is inherited on autosomal dominantly type. Penetrance higher at males.

Pathogeny:

Disturbances of permeability of a cellular membrane, change of ion and mediator exchange (disturbance of functional interrelation in a link calcium – troponin-actomyosin), hypersensitivity of fabric to acetylcholine and potassium matter.

Patomorfologiya. At light microscopy the hypertrophy separate muscular in ло to N is found; histochemical about reduction of the sizes II like muscle fibers predelyatsya; at a submicroscopy the moderate hypertrophy of a sarcoplasmic reticulum, change of a form and increase in the size of mitochondrions, expansion of a telophragma of myofibrillar fibers come to light.

Symptoms of an inborn myatonia:

For the first time symptoms of a disease are shown preferential at the age of 8–15 years. Miotonichesky spasms – difficulties of relaxation of muscles after active tension are the leading signs. Miotonichesky spasms are localized in various groups of muscles, a thicket in muscles of a brush, legs, masseters and circular muscles of an eye. Strong compression of fingers of a brush, a long static stress of legs, a smykaniye of jaws, a zazhmurivaniye of eyes cause tonic spasms. The phase of relaxation of muscles is late for long time, and patients are not able to unclench quickly brushes, to change position of legs, to open a mouth, eyes. The repeated movements reduce miotonichesky spasms. Increase in mechanical excitability of muscles decides on the help of special receptions: at blow its reduction to a brush (from several seconds to one minute) happens a neurologic hammer on an eminence of the I finger – "great toe sign", at blow by a percussion hammer on language on it appears a pole, a banner – "a language symptom". Outward of patients is peculiar. Owing to diffusion they remind a hypertrophy of various muscles professional athletes. At a muscle palpation dense, firm, however objectively muscle strength is reduced. Tendon jerks are normal, in hard cases are lowered.

Current. The disease slowly progresses. Working capacity remains for a long time.

Diagnosis:

The diagnosis is under construction on the basis of the genealogical analysis (an autosomal and dominant mode of inheritance), features of a clinical picture (athletic type of a constitution, the diffusion myopachynsis, a miotonichesky syndrome) given to a global electromyography (miotonichesky reaction).

It is necessary to differentiate a disease from other forms of myatonias, sometimes – from psudohypertrophic forms of the progressing muscular dystrophies.

Leechny inborn myatonia:

Appoint dipheninum (on 0,1–0,2 g 3 times a day during 2–3 weeks), Diacarbum (on 0,125 g 2 times a day during 2–3 weeks), calcium drugs (intravenously 10% calcium chloride solution on 10 ml or a gluconate of calcium intramusculary). It is supposed that dipheninum exerts the braking impact on mono – and polisinaptichesky carrying out in TsNS, and Diacarbum changes permeability of membranes. Are reasonable physical therapy in the form of a galvanic collar and pants with calcium, remedial gymnastics.