Pseudomyopathic form of progressive spinal amyotrophy of the Kugelberg-Velander

In 1942, Wohlfart first described a disease manifested by muscle atrophy and paresis and resembling primary muscular dystrophy, but with widespread fasciculations . In 1956, Kugelberg and Welander emphasized that such a disease is relatively benign; careful electromyographic control allowed the authors to clarify the neurogenic nature of muscle atrophy and classify the latter as a spinal lesion.
The disease begins in most cases at the age of 3-6 years and progresses very slowly. Cases of the later onset of the first symptoms are also described, including in adults. Patients for a long time retain the possibility of self-care and even sometimes performance. According to clinical symptoms, the disease resembles a limb- belt form ( Erb muscular dystrophy ). Muscle weakness and atrophy develop first in the proximal lower extremities and pelvic girdle, then spread to the shoulder girdle. The similarity with Erb myodystrophy is supported by the presence in a significant number of cases of pseudo-hypertrophy of the calf muscles. Bone deformities and tendon retractions are usually absent. When amyotrophy Kugelberg – Welander process can be extended to bulbar department, which clinically manifested little malnutrition language fibrillar twitching. The latter can also be observed in the muscles of the face. Motor disorders, as manifestations of a nuclear lesion of the X-IX-XII and VII pairs of cranial nerves, are detected very late, only with a far-reaching stage of the pathological process. Additional studies with Kugelberg – Velander spinal amyotrophy reveal rather peculiar changes – electromyography indicates distinct signs of spinal damage, while the pathomorphological picture of muscle biopsy is represented by a mixed nature of the pathology – along with neurogenic amyotrophy, there are indications of some dystrophic signs. Similar data are obtained during biochemical studies – the activity of enzymes, including creatine phosphokinase, is often increased, although to a lesser extent than with true myopathy. Creatine-creatinine metabolism is changing. Spinal amyotrophy Kugelberg – Welander relates to a hereditary disease with autosomal recessive transmission type and, apparently, with incomplete penetraptnostyu , since very frequent sporadic cases. There are separate descriptions with autosomal dominant inheritance of the disease. So far, not all authors consider amyotrophy Kugelberg – Velandeoa as an independent disease, considering it a “soft” option of the disease Verdniga – Hoffmann . The main argument in favor of this statement is the observation in one family of siblings with both forms of spinal amyotrophy . However, the presence of symptoms such as muscle psevdogipertrofii , hyperenzymemia , special softness current evidence in favor of nosological independence amyotrophy Kugelberg – Welander . From a practical point of view, this is important because there is a different prognosis for two forms of spinal amyotrophy . There is no specific treatment for Kugelberg – Velander amyotrophy . Symptomatic and restorative agents are used. The right choice of a profession, the elimination of physical overload is important.

Neurogenic scapulohumeral litsevoy syndrome (spinal embodiment myopathy Landuzi Dejerine

In some cases, the spinal amyotrophy localized atrophy typical for Duchenne Landuzi – Dejerine .., Ie, it concerns mainly the muscles of the shoulder girdle, especially the locking blade proximal upper limbs (biceps and triceps muscles) and muscles of the face. An electromyographic study reveals a high-amplitude, reduced bioelectric activity with clear fasciculation potentials , i.e., a picture characteristic of a spinal lesion level. The activity of enzymes in the blood serum of such patients is usually normal, indicators of creatine-creatinine metabolism are almost unchanged. Currently, a lot of descriptions of such cases have accumulated in the literature and a number of authors distinguish neurogenic muscle atrophy resembling the Landusi-Dejerine form . The onset of the disease, as with Landusi -Dejerine myodystrophy , at different ages – both in childhood and in adults (from 7 to 40 years). The disease is relatively favorable, the progression is slow. With the spinal variant of the Landusi – Dejerine disease, the asymmetry of the lesion is more clearly detected. Relatively often observed change of heart, documented ECG abnormalities, unlike Duchenne glenohumeral -litsevoy. Damage to the muscles of the face can be minimal or detected late [ Furukawa , Peter , 1978]. Lopatochno- peroneal form amyotrophy some authors regard as a kind of variant of neurogenic muscular dystrophy Landuzi – Dejerine . In these cases, involvement in the pathological process of the heart is sometimes described.

local_offerevent_note October 24, 2019

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