Side amyotrophic sclerosis
Side amyotrophic sclerosis — a neurodegenerate disease to which death of the central and peripheral motor-neurons accompanies. The main displays of a disease – an atrophy of skeletal muscles, fastsikulyation, a spastichnost, a hyper reflection, pathological pyramidal signs in lack of pelvic and glazodvigatelny frustration. It is characterized by the steady progressing current leading to a lethal outcome. The side amyotrophic sclerosis is diagnosed on the basis of data of the neurologic status, ENG, EMG, MRT of a backbone and brain, the analysis of tserebrospinalny liquid and genetic researches. Unfortunately, today the medicine has no effective pathogenetic therapy the BASS.
Side amyotrophic sclerosis
Side amyotrophic sclerosis — a neurodegenerate disease to which death of the central and peripheral motor-neurons accompanies. The main displays of a disease – an atrophy of skeletal muscles, fastsikulyation, a spastichnost, a hyper reflection, pathological pyramidal signs in lack of pelvic and glazodvigatelny frustration. It is characterized by the steady progressing current leading to a lethal outcome.
Correspond to the concept "side amyotrophic sclerosis" also: a disease of a motor neuron, a family disease of a motor neuron, the progressing muscular atrophy, the progressing bulbarny paralysis.
Etiology and pathogenesis of a side amyotrophic sclerosis
Side amyotrophic sclerosis — "a final way" of the cascade of the all-pathological reactions initiated by various known or unknown triggers. In certain cases the side amyotrophic sclerosis can be caused by mutations in a gene superoksiddimutazy-1 when as the major pathogenetic factor serves cytotoxic effect of defective enzyme. Mutant superoxide dismutase-1 collects between layers of a mitochondrial membrane, breaking aksonalny transport; interacts with other proteins that leads to violation of their degradation.
Emergence of sporadic cases of a side amyotrophic sclerosis is promoted by unknown triggers which also as well as mutant superoxide dismutase-1, are capable to realization of the effects in the conditions of the raised functional load of motor-neurons that causes their selective vulnerability. As a result of strengthening of functions of motor-neurons the level of emission of a glutamate increases, excess of intracellular calcium collects, intracellular proteolytic enzymes are activated, and the marked-out surplus of free radicals from mitochondrions damages microglias, astroglias, and also motor-neurons with their subsequent degeneration.
Classification of a side amyotrophic sclerosis
Now distinguish four main forms of a side amyotrophic sclerosis:
- high (cerebral);
- lumbar and sacral.
Clinical picture of a side amyotrophic sclerosis
In classical option of a side amyotrophic sclerosis with a cervical debut at the beginning of a disease asymmetric top sluggish paraparesis with a hyper reflection and pathological pyramidal signs at the same time is formed. Along with it asymmetric lower spastic paraparesis with a hyper reflection and pathological signs develops. Further the combination of bulbarny and psevdobulbarny syndromes joins, still later are more shown amyotrophy of the lower extremities, prevailing in razgibatelny group of muscles.
In segmentoyaderny option of a side amyotrophic sclerosis with a cervical debut at the beginning of a disease asymmetric top sluggish paraparesis to which the hyporeflection and pathological pyramidal signs in the lower extremities accompany is formed (without hyper tone). At the time of development of a plegiya in proximal extremities the minimum pyramidal symptomatology in hands dies away, patients keep at this time ability to move independently. With development of a disease also the bulbarny syndrome joins, still later there is distinct amyotrophy and paresis in the lower extremities.
In classical option of a side amyotrophic sclerosis with a diffusion debut the disease starts with development of sluggish asymmetric tetraparesis. Along with it the bulbarny syndrome in the form of a dysphonia and a dysphagy develops. Bystry fatigue, the expressed decrease in body weight, inspiratory short wind is observed.
In classical option of a side amyotrophic sclerosis with a lumbar debut at the beginning of a disease asymmetric lower sluggish paraparesis with a hyper reflection and pathological pyramidal signs is formed. Together with it asymmetric top paraparesis with amiotrofiya, a hyper tone of muscles, a hyper reflection and pathological pyramidal signs is observed. At the time of development of a sluggish paraplegia patients keep ability to use hands. Later bulbarny and psevdobulbarny syndromes join.
In segmentoyaderny option of a side amyotrophic sclerosis with a lumbar debut the disease starts with formation of the lower sluggish asymmetric paraparesis with atrophies and early fading of tendinous reflexes. Further the top sluggish asymmetric paraparesis with early fading of tendinous reflexes joins. The bulbarny syndrome developing subsequently is shown in the form of a dysphonia and a dysphagy. The expressed inspiratory short wind because of early involvement in pathological process of auxiliary respiratory muscles, and also the expressed decrease in body weight is observed.
In pyramidal option of a side amyotrophic sclerosis with a lumbar debut the disease demonstrates from formation of the lower spastic asymmetric paraparesis with a hyper reflection, amiotrofiya and pathological pyramidal signs; further the top spastic paraparesis with the same signs then the psevdobulbarny syndrome develops also joins it.
In classical option of a side amyotrophic sclerosis with the progressing bulbarny paralysis at the beginning of a disease the dizartriya, a dysphagy, a nazofoniya, an atrophy and fastsikulyation of language develop. In a consequence the top sluggish asymmetric paraparesis with a hyper reflection, atrophies and pathological pyramidal signs develops. Then the lower spastic asymmetric paraparesis with a hyper reflection and pathological pyramidal signs joins. The expressed decrease in body weight is observed, and in a late stage of a disease respiratory violations join.
In segmentoyaderny option of a side amyotrophic sclerosis with the progressing bulbarny paralysis the disease starts with development of a dysphonia, a dysphagy, a dizartriya, loss of pharyngeal and mandibulyarny reflexes. Further the top sluggish asymmetric paraparesis with a hyper reflection, atrophies and pathological pyramidal signs develops. Later the lower spastic asymmetric paraparesis with a hyper reflection and pathological signs joins. Due to the dysphagy body weight significantly decreases. In a late stage of a disease respiratory violations join.
Diagnosis of a side amyotrophic sclerosis
Diagnosing of a side amyotrophic sclerosis requires existence of the following criteria: signs of defeat of peripheral motor-neuron according to clinical, electrophysiological and patomorfologichesky data; signs of defeat of the central motor-neuron according to clinical data; the progressing distribution of symptoms in one or several areas of an innervation (comes to light at observation of the patient). At the same time lack of electrophysiological and pathological symptoms of other disease which existence would explain a degeneration of the central and peripheral motor-neurons, and also data of neurovisualization on existence of other diseases which could explain clinical and electrophysiological signs is necessary.
There are several clinical forms of the side amyotrophic sclerosis (SAS): a sporadic form — a side amyotrophic sclerosis in the isolated look or against the background of associated diseases; genetically determined (hereditary, family) a form — the side amyotrophic sclerosis shown more than in one generation of a family, having various types of inheritance and/or associated with various kauzativny mutations. Separately allocate several BASS-LIKE syndromes which are phenomenologically reminding a side amyotrophic sclerosis, but developing at other pathological processes. Characteristic signs of BASS-LIKE syndromes: endemichnost, existence of family or sporadic extrapyramidal symptomatology, cerebellum degeneration, dementia of frontal type, vegetative insufficiency, sensitive and glazodvigatelny violations.
One more form of a side amyotrophic sclerosis — the BASS with laboratory signs of the uncertain diagnostic importance — the cases the BASS which are combined with laboratory signs which have uncertain relation to pathogenesis of a disease. Diagnosing of such cases the BASS requires their compliance to electrophysiological, clinical and neuroradiological criteria of reliable or clinically possible side amyotrophic sclerosis. The attitude of additional laboratory signs towards pathogenesis of a disease is possible, but it is not obligatory. Treat such laboratory signs: high credits of antibodies, monoclonal gammapatiya, lymphoma, benign endocrinological pathology (, , etc.), exogenous intoxication (mercury, lead, etc.), infections (brucellosis, syphilis, HIV, shingles, etc.).
At suspicion on a side amyotrophic sclerosis are necessary: collecting anamnesis (both personal, and family); fizikalny and neurologic inspection; tool inspections (brain EMG, MRT); laboratory researches (general and biochemical blood test); serological analyses (antibodies to HIV, Wasserman's reaction, etc.); likvor research; the molecular and genetic analysis (mutations in a gene superoksiddissmutazy-1).
When collecting the anamnesis it is necessary to pay attention to complaints of the patient to constraint and/or weakness in these or those groups of muscles, muscular twitchings and spasms, weight loss of these or those muscles, episodes of an acute shortage of air, violation of the speech, salivation, swallowing, short wind (at physical activity and for lack of that), feeling of disappointment a dream, the general fatigue. Besides, it is necessary to specify existence (or absence) doublings in eyes, a fever, a memory impairment.
Neurologic inspection at suspicion on a side amyotrophic sclerosis has to include selective neuropsychological testing; assessment of a cranial innervation, check of a mandibulyarny reflex; assessment of bulbarny functions; force of grudino-mastoidal and trapezoid muscles; assessment of a muscular tone (on a scale of the British Council of medical researches), and also expressivenesses of motive violations (on Ashfort's scale). Besides the research of pathological reflexes and koordinatorny tests is necessary (static and dynamic).
On a needle electromyography reveal signs of a sharp and chronic denervation or the current denervatsionny process that is confirmation of defeat of the central neurons. A characteristic electrophysiological sign of a side amyotrophic sclerosis are potentials of fastsikulyation, their quantitative distribution in these or those muscles can vary. However it is necessary to remember relative specificity of fastsikulyation ("good-quality" fastsikulyation can arise also at healthy people).
The only laboratory method with which it is possible to confirm a side amyotrophic sclerosis is the molecular and genetic analysis of a gene superoxide dismutases-1. The biopsy of a peripheral nerve, skeletal muscle and other fabrics is necessary only in those cases of a side amyotrophic sclerosis when there are neuroradiological, neurophysiological and clinical data not characteristic for the BASS.
For differentiation of a side amyotrophic sclerosis from potentially curable and/or having the good-quality forecast diseases MRT of a backbone and a brain is carried out. With its help reveal signs of a degeneration of pyramidal paths which are characteristic of pyramidal and classical options the BASS.
Besides, in connection with similar symptoms and a clinical picture the side amyotrophic sclerosis needs to be differentiated from:
- diseases of muscles (miozit with cellular deviations, a dystrophic miotoniya of Rossolimo-Shteynerta-Kurshmana, an okulofarengialny miodistrofiya);
- diseases with defeat of a neuromuscular synapse (a myasthenia, Lambert-Eaton's syndrome);
- diseases of peripheral nerves (a multifocal motor neuropathy with carrying out blocks, Personeydzha-Turner's syndrome, the isolated motor polyneuropathies, a proximal diabetic motor polyneuropathy, Isaaks's neyromiotoniya);
- diseases of a spinal cord (bulbospinalny amyotrophy of Kennedy, and also others spinal amyotrophy of adults, a chronic vertebrogenny ischemic miyelopatiya, a siringomiyeliya, tumors of a spinal cord, a family spastic paraplegia, deficiency of a geksozaminidaza, chronic or a lymphoma with defeat of peripheral motor-neurons);
- brain diseases (distsirkulyatorny encephalopathy, multisystem atrophy, siringobulbiya, tumors of a back cranial pole and kraniospinalny transition);
- system diseases.
Treatment of a side amyotrophic sclerosis
Main objectives of therapy of a side amyotrophic sclerosis: delay of progressing of a disease and extension of the period of a disease at which the patient keeps ability to self-service; reduction of expressiveness of separate symptoms of a disease and maintenance of stable level of quality of life.
As indications to hospitalization primary inspection, and also carrying out a chreskozhny endoscopic gastrotomiya can serve. The neurologist can report to the patient about the diagnosis the BASS only after careful inspection which usually is also repeated. It is necessary to inform the patient variability of progressing of a disease.
The only medicine which is authentically slowing down progressing of a side amyotrophic sclerosis — . It is presynaptic inhibitor of release of a glutamate which use allows to prolong life to patients on average for 3 months. As the indication to application of a riluzol serve the reliable side amyotrophic sclerosis or a probable side amyotrophic sclerosis at an exception at the patient of other probable causes of defeat of the central and peripheral motor-neurons, lasting disease less than five years, without trakheostomiya, with FVCL (the forced vital capacity of lungs) more than 60%. Riluzol appoint for life regardless of meal. At the same time monitoring (each 3 months) of level hepatic in order to avoid development of medicinal hepatitis is necessary.
Attempts of pathogenetic therapy of a side amyotrophic sclerosis other medicines (including antikonvulsant, metabolic means, protivoparkinsonichesky means, antioxidants, blockers of calcic channels, immunomodulators) were unsuccessful.
Problem of palliative therapy is suspension of progressing of the main symptoms of a side amyotrophic sclerosis — a dysphagy, a dizartriya, fastsikulyation, a spastichnost, a depression. For improvement of metabolism of muscles purpose of a carnitine, left carnitine, creatine courses for 2 months three times a year is recommended. For walking simplification to patients recommend to use orthopedic footwear, walkers, a cane, and at thrombosis of deep veins of the lower extremities bandaging of legs is shown by elastic bandage.
Dysphagy — the fatal symptom of a side amyotrophic sclerosis leading to a kakheksiya. At first frequent sanitation of an oral cavity is carried out, subsequently the consistence of food is changed. At the same time, at the earliest stages of development of a dysphagy it is necessary to lead a discussion with the patient, having explained it need of carrying out an endoscopic gastrotomiya, focusing attention that it will improve its state and will prolong life.
Need of a trakheostomiya and IVL — a signal of a fast lethal outcome. As arguments against carrying out IVL the low-probability of the subsequent removal of the patient from the device, high cost of care of such patient, technical difficulties, and also post-resuscitation complications can serve (pneumonia, post-hypoxemic encephalopathy, etc.). Arguments for IVL — desire of the patient to prolong itself life.
The forecast at a side amyotrophic sclerosis
At a side amyotrophic sclerosis the forecast is always adverse. The hereditary cases the BASS which are associated with certain mutations in a gene superoxide dismutases-1 can make an exception. Disease duration at a lumbar debut — about 2,5 years, at bulbarny — about 3.5 years. No more than 7% of patients with the diagnosis the BASS live more than 5 years.