Rare forms of spinal muscular atrophy

Rare forms of spinal amyotrophy include hereditary distal muscle atrophy. The disease begins with the distal parts of the lower extremities, the distal parts of the hands are gradually involved in the process, generalization of the process can be observed.
A neurogenic form of oculopharyngeal atrophy is described , which is transmitted in an autosomal dominant manner. The authors reported a case where autopsy revealed degeneration of cells of the anterior horns of the spinal cord and motor nuclei of the cranial nerves, including nuclei of pairs III and X. Most cases of multiple congenital arthrogryposis are related to spinal amyotrophy . The pathological process consists in the underdevelopment of cells of the anterior horns of the spinal cord with paresis of the corresponding muscles. As a result of the occurrence of uneven muscle traction in utero, contractures and improper joint development can form.During a biopsy and EMG study, in some cases, neurogenic and myogenic changes are noted, in connection with which the term ” pseudomyopathy ” is proposed. There are also undifferentiated forms of spinal amyotrophy with a rapidly progressive, slowly progressive and non-progressive course.

Myositis is an inflammatory disease of the muscles of various etiologies, characterized by pain, muscle weakness and sometimes atrophy of the affected muscle groups. There are acute, subacute and chronic myositis, which can be localized and common. By etiology, they are divided into purulent, infectious non-purulent, infectious-allergic ( polymyositis ), toxic, parasitic. Neuromyositis , polyfibromyositis , ossifying myositis , are also isolated.

Purulent myositis is caused by coccal flora, anaerobic infection and other pathogens. Most often, they develop against the background of a purulent process in the body, especially with septicopyemia . Sources of infection can be inflammatory foci in the skin, female genital organs, adnexal nasal cavities, middle ear, etc. Cooling or additional trauma can help localize the inflammatory process in a particular muscle.

Clinic myositis

The disease develops against the background of such general symptoms as fever, chills, swollen lymph nodes; leukocytosis, increased ESR are noted in the blood. The clinic of purulent myositis is represented by local pains, the intensity of which is rapidly increasing. The pain sharply intensifies with movements that cause contraction of the affected muscles, and with palpation. Swelling, swelling of the soft tissues, and sometimes flushing of the skin appear. In the place of developing infiltrate, fluctuation occurs, with puncture, pus is obtained. Treatment of acute purulent myositis – large doses of antibiotics, physiotherapy, surgery.
Infectious non-purulent myositis is observed against the background of acute or chronic infections (flu, respiratory diseases, rheumatism, tuberculosis, brucellosis, syphilis). A particular form of infectious myositis is the Bornholm disease, caused by a virus from the Coxsackie group . Infectious myositis can develop acutely, subacute or have a chronic course.
The clinical picture is characterized by a local pain syndrome. The pain intensifies with palpation, with active movements, the points of muscle attachment are sharply painful. Swelling, muscle tension are noted, sometimes painful, dense formations ranging in size from millet grain to a bean – Cornelius points , as well as painful seals that change shape under pressure – a symptom of Mueller hypertension , are palpated . In the deep layers of the muscles you can find round or oblong compaction of the gel -like consistency – myogeloses . Often there is skin hyperesthesia and muscle weakness due to the presence of pain. Atrophy for this type of myositis is uncharacteristic .
Rheumatic myositis is characterized by “flying” pain in the muscles with sharp pain on palpation, which intensifies when the weather changes, and moderate hypotrophy sometimes develops. In these cases, a pathomorphological examination reveals typical rheumatic granulomas.
With syphilitic myositis, the development of solitary gumma occurs or diffuse lesion develops with the phenomena of myosclerosis .
Treatment for infectious myositis consists of symptomatic agents (painkillers) and specific therapy for myositis due to chronic infections.
Neuromyositis occurs when it affects not only the muscle tissue itself, but also the intramuscular nerve fibers, and sometimes the distal nerves. With this form, there is a pronounced pain syndrome, moderate symptoms of tension may be observed. On EMG, denervation cements are sometimes detected . In addition to analgesics, anti-inflammatory drugs, thermal procedures, diadynamic currents, and sometimes procaine blockades are used in the treatment. Polyphibromyositis is characterized by a pronounced reaction of connective tissue with the development of fibrosis in the inflamed muscle. The disease is manifested, in addition to spontaneous pain, also a sharp pain on palpation, mainly in the places of muscle attachment. Typically, tendons of muscles that can become thicker suffer, retraction develops in them, which leads to contractures. In severe cases, there is progressive fibrosis of the muscles, especially the muscles of the neck, back, shoulder girdle with a sharp restriction of movements and the formation of pathological postures. In this case, the affected muscles do not relax during sleep and during general anesthesia.
The complex of treatment includes anti-inflammatory drugs (in the acute stage), as well as injections of lidase , sometimes steroid hormones; shown massage, exercise therapy, physiotherapy, balneotherapy .
Ossifying myositis, or Münchmeier’s disease , is represented by progressive sclerosis of the intermuscular connective tissue and the appearance of bone elements in it. Along with muscle damage, fascia, tendons, aponeurosis suffer. Often there is a history of trauma (sometimes repeated microtrauma) or benign dermatomyositis. More often, ossifying myositis develops in childhood or adolescence, mainly males. The disease is characterized by progressive restriction of movement, stiffness of the muscles of the neck, back, proximal limbs, sometimes the muscles of the face, chewing muscles. On palpation, it is possible to detect more or less dense formations in the form of plates, ossification is visible on radiographs .
The treatment is ineffective. In some cases, a slight improvement was noted during repeated courses of intravenous infusions of EDTU (calcium disodium salt of ethylenediaminetetraacetic acid).

local_offerevent_note October 23, 2019

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