Amyotrophic lateral sclerosis - Neurodegenerative disease, which is accompanied by the death of the central and peripheral motor neurons. The main manifestations of the disease - skeletal muscle atrophy, fasciculations, spasticity, hyperreflexia, pathological pyramidal signs in the absence of pelvic and oculomotor disorders. It is characterized by a steady progressive course leading to death. Amyotrophic lateral sclerosis is diagnosed on the basis of the neurologic status, ENG, EMG, MRI of the spine and brain, cerebrospinal fluid analysis and genetic research. Unfortunately, to date, the medicine has no effective pathogenetic treatment of ALS.
Amyotrophic lateral sclerosis
dysphonia and dysphagia. There is fatigue, marked weight loss, inspiratory dyspnea.
In the classic version of amyotrophic lateral sclerosis with lumbar debut at the beginning of the disease is formed asymmetric lower flaccid paraparesis with hyperreflexia and pathological pyramidal signs. At the same time there is an asymmetric top paraparesis with amyotrophy, muscle hypertonicity, hyperreflexia and pathological pyramidal signs. At the time of sluggish paraplegia patients retain the ability to use his hands. Later joined by bulbar and pseudobulbar syndromes.
In the segmented variant of amyotrophic lateral sclerosis with lumbar onset of the disease starts with the formation of the lower flaccid paraparesis with asymmetric atrophy and early extinction of tendon reflexes. Later joins the upper asymmetric flaccid paraparesis with early extinction of tendon reflexes. Evolving subsequently bulbar syndrome manifested as dysphonia and dysphagia. There is a severe inspiratory dyspnea due to early involvement in the pathological process of the auxiliary respiratory muscles, as well as a marked reduction in body weight.
The pyramidal form of amyotrophic lateral sclerosis with lumbar onset of the disease manifests with the formation of the lower asymmetric spastic paraparesis with hyperreflexia, amyotrophy and pathological pyramidal signs; in the future it is joined and the upper spastic paraparesis with the same signs, and then develops pseudobulbar palsy.
In the classic version of amyotrophic lateral sclerosis with progressive bulbar palsy early in the disease developed dysarthria, dysphagia, nazofoniya, atrophy and fasciculations language. Later develops upper asymmetric flaccid paraparesis with hyperreflexia, pathological atrophy and pyramidal signs. Then joins the lower asymmetric spastic paraparesis with hyperreflexia and pathological pyramidal signs. There is a marked reduction in body weight, and respiratory disorders are joined in a late stage of the disease.
In the segmented variant of amyotrophic lateral sclerosis with progressive bulbar palsy disease starts with the development of hoarseness, dysphagia, dysarthria, loss of pharyngeal and mandibular reflexes. Further developing the upper asymmetric flaccid paraparesis with hyperreflexia, pathological atrophy and pyramidal signs. Later joins the lower asymmetric spastic paraparesis with hyperreflexia and pathological signs. In connection with dysphagia significantly reduced body weight. In the late stages of the disease are joining respiratory disorders.
In the segmented variant of amyotrophic lateral sclerosis with progressive bulbar palsy disease manifests with dysphagia, nazofonii, dysarthria, fasciculations and atrophy of the language. Subsequently develops upper asymmetric flaccid paraparesis with early loss of tendon reflexes, atrophy, but in the absence of explicit pathological pyramidal signs. Later joins the lower asymmetric flaccid paraparesis with the same characteristics. Due to dysphagia significantly reduced body weight, respiratory disorders occur in the later stages of the disease.
electrophysiologic and pathologic; signs of upper motor neuron lesion on clinical data; progressive spread of symptoms in one or more areas of innervation (detected during monitoring of patients). At the same time there must be no electrophysiological and pathological signs of a disease, which would explain the presence of the central and peripheral degeneration of motor neurons, as well as imaging data about the presence of other diseases, that could explain clinical and electrophysiological characteristics.
There are several clinical forms of amyotrophic lateral sclerosis (ALS): sporadic form - amyotrophic lateral sclerosis in isolated form or with concomitant diseases; genetically determined (inherited, familial) form - amyotrophic lateral sclerosis, manifested in more than one generation of a family that has different types of inheritance and /or associated with different causative mutations. Separately identify several ALS-like syndromes, phenomenological resembling amyotrophic lateral sclerosis, but developing in other pathological processes. Typical symptoms of ALS-like syndromes: endemic, sporadic or familial presence of extrapyramidal symptoms, cerebellar degeneration, dementia of the frontal type of autonomic failure, sensory and oculomotor disturbances.
Another form of amyotrophic lateral sclerosis - ALS with laboratory evidence of uncertain diagnostic significance - cases of ALS, combined with laboratory findings, which are of uncertain relationship to the pathogenesis of the disease. For the diagnosis of ALS cases they need to be matching electrophysiology, clinical and neuroimaging criteria for clinically significant or possible amyotrophic lateral sclerosis. The ratio of additional laboratory evidence of the pathogenesis of the disease is possible, but not necessarily. These laboratory findings include high titers of antibodies, monoclonal gammopathy, lymphoma, benign endocrinological pathology (hyperparathyroidism, hyperthyroidism, etc.), Exogenous intoxication (mercury, lead, etc.), Infections (brucellosis, syphilis, HIV, shingles, etc. )
If you suspect amyotrophic lateral sclerosis needed: medical history (both personal and family); physical and neurological examination; instrumental examinations (EMG, MRI of the brain); laboratory tests (general and biochemical blood test); serological tests (HIV antibody, Wasserman et al.); study of cerebrospinal fluid; molecular genetic analysis (superoksiddissmutazy mutations in a gene-1).
When collecting medical history is necessary to pay attention to the patient's complaints of stiffness and /or weakness in certain muscle groups, muscle twitching and cramps, weight loss of certain muscles, episodes of acute shortage of air, speech, salivation, swallowing, shortness of breath (during exercise and in the absence thereof), dream frustration, general fatigue. In addition, it is necessary to clarify the presence (or absence) of double vision, chills, memory impairment.
Neurological examination for suspected ALS should include selective neuropsychological testing; evaluation of cranial innervation mandibular reflex test; assessment of bulbar functions; force sternomastoid and trapezius muscles; assessment of muscle tone (on the scale of the British Medical Research Council), as well as the severity of motor disorders (on a scale Ashforta). Additionally, you must study the pathological reflexes and coordination tests (static and dynamic).
On needle electromyography reveals signs of acute and chronic denervation or current denervation process, which confirms the defeat of central neurons. A typical electrophysiological signs of amyotrophic lateral sclerosis are fasciculations potentials, their quantitative distribution in certain muscles can vary. However, be aware of the relative specificity fasciculations ( "benign" fasciculations may occur in healthy people).
The only laboratory method, which can be confirmed by amyotrophic lateral sclerosis, is a molecular genetic analysis of the gene superoxide dismutase-1. Biopsy of peripheral nerve, skeletal muscle, and other tissues needed only in cases of amyotrophic lateral sclerosis, where there is neuroimaging, neurophysiological and clinical data is not characteristic of ALS.
MRI of the spine and brain. With its help detect signs of degeneration of the pyramidal tracts, which are characteristic of pyramidal and classical variants of ALS.
Furthermore, in connection with similar clinical symptoms and amyotrophic lateral sclerosis must be differentiated from:
neurologist may only after a thorough examination, which is usually and repeatedly. It is necessary to inform the patient variability in disease progression.
The only drug that significantly slows the progression of amyotrophic lateral sclerosis - riluzole. This presynaptic glutamate release inhibitor, the use of which allows you to extend the life of patients by an average of 3 months. The indications for the use of riluzole are valid amyotrophic lateral sclerosis or amyotrophic lateral sclerosis likely to the exclusion of the patient other possible reasons for the defeat of the central and peripheral motor neurons, with disease duration of less than five years, without tracheostomy, with FVC (forced vital capacity), more than 60%. Riluzole appointed for life, regardless of the meal. This requires monitoring (every 3 months) liver transaminase levels in order to avoid the development of drug-induced hepatitis.
Attempts pathogenetic treatment of amyotrophic lateral sclerosis other drugs (in t. H. Anticonvulsants, metabolic agents, antiparkinsonian agents, antioxidants, calcium channel blockers, immunomodulators) were unsuccessful.
The aim of palliative care is the suspension of the main symptoms of the progression of amyotrophic lateral sclerosis - dysphagia, dysarthria, fasciculations, spasticity, depression. To improve muscle metabolism recommended Carnitine, levocarnitine creatine courses for 2 months three times a year. To help patients walk is recommended to use orthopedic shoes, walkers, canes, and thrombosis of deep veins shown bandaging leg elastic bandages.
Dysphagia - a fatal symptom of amyotrophic lateral sclerosis, leading to cachexia. First, spend part of dental health, then change the consistency of the food. However, in the very early stages of development of dysphagia is necessary to conduct a conversation with the patient, explaining to him the need for endoscopic gastrotomy, focusing on the fact that it will improve its condition and prolong life.
The need for tracheostomy and mechanical ventilation - a signal of the imminent deaths. The arguments against the mechanical ventilation may be unlikelihood subsequent removal of the patient from the unit, the high cost of care for such patients, technical complexity, and postresuscitation complications (pneumonia, posthypoxic encephalopathy, etc). The arguments for ventilator - the desire of the patient to prolong his life.
The prognosis of amyotrophic lateral sclerosis
In amyotrophic lateral sclerosis prognosis is always unfavorable. An exception may be inherited cases of ALS associated with certain mutations in the superoxide dismutase-1. The duration of the disease in the lumbar debut - about 2.5 years, bulbar - about 3.5 years. Not more than 7% of the patients diagnosed with ALS live more than 5 years.