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Neuromuscular and muscular diseases

Neuromuscular diseases are a conditionally distinguished group of diseases that are characterized by impaired muscle function, primarily their weakness. Neuromuscular diseases include muscle diseases, peripheral nerve diseases, neuromuscular junction diseases, and motor neuron diseases. The same symptom of muscle weakness can be a manifestation of very different diseases. This determines a completely different prognosis and treatment options.

Muscle diseases

Acquired myopathies:

  • inflammatory myopathies: (polymyositis, dermatomyositis, myositis with inclusions, sarcoid myopathy;
  • infectious myopathies (HIV myopathies, viral myositis, bacterial myositis, parasitic myositis);
  • medicinal and toxic myopathies (corticosteroid myopathy, myopathy when using drugs to lower cholesterol, alcoholic myopathy, myopathy in critical conditions).

Secondary metabolic and endocrine myopathies:

  • hypokalemic myopathy;
  • hypophosphatemic myopathy;
  • myopathy in chronic renal failure;
  • myopathy in diabetes;
  • myopathy in hypothyroidism;
  • myopathy in hyperthyroidism;
  • myopathy in hyperparathyroidism;
  • Cushing's disease.

Primary metabolic myopathies:

  • myoglobinuria;
  • channelopathy;
  • hereditary myopathies;
  • muscular dystrophies.
Diseases of peripheral nerves
Diseases of the neuromuscular synapse
  • Myasthenia gravis
  • Lambert-Eaton syndrome
  • Botulism
  • Tick-borne paralysis
Motor neuron diseases
  • Amyotrophic lateral sclerosis
  • Diseases of the lower motor neuron
  • spinal muscular atrophy
  • monomelic amyotrophic lateral sclerosis
  • Kennedy's disease
  • Diseases of the upper motor neuron
  • hereditary spastic paraparesis
  • primary lateral sclerosis

Diseases of the neuromuscular junction

A neuromuscular junction or neuromuscular synapse is the junction of a nerve ending and a muscle fiber to form a so–called synaptic cleft, in which an impulse is transmitted from the nerve to the muscle membrane. The impulse is transmitted using the neurotransmitter acetylcholine, which is released by the nerve end and then attaches to the muscle membrane. In some diseases, neuromuscular transmission is disrupted due to insufficient release of acetylcholine from the nerve ending or due to a violation of its attachment to the membrane of the muscle fiber.

Myasthenia Gravis

The Greek term myasthenia gravis means "muscle weakness" and gravis means "serious". Myasthenia gravis is a disease characterized by severe muscle weakness and fatigue. With myasthenia Gravis, there is a violation of the transmission of an impulse from a nerve fiber to a muscle fiber. The disease is based on the production of autoantibodies that block the attachment of the neurotransmitter acetylcholine to the muscle membrane at the neuromuscular synapse.

Symptoms

Muscle weakness varies throughout the day, is usually less pronounced in the morning and increases in the afternoon and evening. Early signs of the disease are

How is the diagnosis made?

The diagnosis of myasthenia gravis is made by a doctor based on a blood test and electroneuromyography. If necessary, computed tomography of the chest is prescribed to assess the size and condition of the thymus gland as a search for a possible cause of the disease (autoantibody production).

Treatment

Anticholinesterase drugs (Pyridostigmine or Kalimine) and drugs that suppress the immune system (prednisone and others) are used in the treatment of myasthenia Gravis. Removal of the thymus gland (thymectomy) is performed when drug therapy is ineffective. Plasmapheresis and immunoglobulins can also be used in the treatment.

Lambert-Eaton syndrome

Lambert-Eaton syndrome is a syndrome of muscle weakness and fatigue that develops due to an autoimmune process. Usually, the cause of the syndrome is a malignant oncological process, most often lung cancer. Therefore, when making a diagnosis of Lambert-Eaton syndrome, the patient is always shown a follow-up examination for the purpose of a cancer search.

Symptoms

Symptoms of the disease are most often associated with weakness of the muscles of the shoulders, hips, neck, swallowing, respiratory muscles, as well as the muscles of the larynx and muscles associated with speech articulation. Early signs of Lambert-Eaton syndrome are, as a rule, difficulties with walking up stairs, getting up from a sitting position, and raising your arms above your head. Sometimes vegetative functions are disrupted, manifested by dry mouth, impotence.

Why does Lambert-Eaton syndrome occur?

The cause is antibodies produced by the body itself (a similar autoimmune conflict is observed in myasthenia Gravis). In particular, antibodies destroy nerve endings, thereby disrupting the regulation of the amount of neurotransmitter released. When the amount of neurotransmitter is insufficient, muscles cannot contract. The disease is not hereditary, it mainly affects young people under 40 years of age. The prevalence of the disease is 1 per 1,000,000 people. 40% of patients with Lambert-Eaton syndrome are diagnosed with cancer.

How is Lambert-Eaton syndrome diagnosed?

The diagnosis includes a blood test for antibodies, a test injection of an anticholinesterase drug, and electroneuromyography.

Treatment

The most effective measure is to remove a malignant tumor found in the body. Symptomatic therapy includes drugs that increase the release or amount of the neurotransmitter acetylcholine acting in the synaptic cleft (kalimine, 3,4-diaminopyridine). Drugs that suppress the immune system (prednisone, etc.), plasmapheresis and immunoglobulins are also used.

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Doctors

Dragan Ivan
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Mityukova Marina
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Kameldenova Dinara
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Ermilova Elizaveta
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Volkov Sergey
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Shchelukhin Alexandr
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Eliseev Yuriy
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Kamchatnov Pavel
Doctor of Medicine, Professor
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Fitze Ingo
Head of the Interdisciplinary Sleep Medicine Center at the Charite University Hospital (Berlin, Germany), founder of the private sleep Medicine Institute Somnico GmbH in Berlin., Professor, Doctor of Medicine
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Ilyin Nikolai
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Medvedeva Anastasiya
Ph.D. of Medical Sciences
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Pechatnikova Natalia
Hereditary metabolic diseases
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Nogovitsyn Vasiliy
Leading pediatric neurologist and epileptologist, Ph.D. of Medical Sciences
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Maslak Andrey
Clinical neurophysiology and neuromuscular diseases
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Lobanova (Kakaulina) Viktoria
Neurologist, polyclinic
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Goldberg Nadezhda
Ph.D. of Medical Sciences
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Motovilova Ekaterina
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Bezdolny Yuri
Parkinsonologist, Ph.D. of Medical Sciences
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Akimov Vitaly
Head of the Neurology Department, Ph.D. of Medical Sciences
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Dragan Ivan
  • Specialization — diagnosis of emergency conditions, differential diagnosis, treatment of dizziness, cognitive impairments, syndromes associated with diseases of the musculoskeletal system, movement disorders and extrapyramidal disorders
  • Health Plan Doctor: Preventive Neurology, Dementia prevention, ONMC
  • Graduated from the State University of Medicine and Pharmacology Universitatea de Stat de Medicinău Farmacie "Nicolae TestemițAnu"
Total experience
13 years
Experience in EMC
since 2022

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