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Hereditary diseases of the nervous system

Hereditary diseases of the nervous system is a large heterogeneous group of diseases, which are based on genetically caused damage to the peripheral nerves, spinal cord, and skeletal muscles.


I. Hereditary metabolic diseases occurring with damage to the nervous system.

1. Hereditary metabolic disorders of amino acids: phenylpyruvic oligophrenia, histidinemia, homocysteinuria, alkaptonuria, metabolic disorders of tyrosine, tryptophan.

2. Hereditary disorders of lipid metabolism: Nyman-Peak, Gaucher disease, amavrotic idiocy, Tay-Sachs disease, lipodystrophy.

3. Disorders of carbohydrate metabolism: galactosemia, fructosemia, pentosuria, glycogenosis.

4. Mucolipidoses: neurovisceral lipidosis.

5. Violation of bilirubin and pigment metabolism: hyperbilirubinemia, constitutional hepatic dysfunction, chronic non-hemolytic jaundice, porphyria.

II. Hereditary connective tissue diseases.

1. Mucopolysaccharidoses - gargoyleism.

2. Marfan syndrome.

3. Syndrome of Chernogubov-Ehlers-Danlos

4. Imperfect osteogenesis, brittle bone syndrome, blue sclera and deafness.

III. Phacomatoses are diseases related to ectodermal-mesodermal dysplasia. The name of this group of diseases comes from the word phacos - spot, because one of the mandatory symptoms is a change in pigmentation of the skin. In addition, there is a pathology of the nervous system and internal organs. The group of phacomatoses includes:

1. Neurofibromatosis of Reglinghausen.

2. Encephalotrigeminal angiomatosis of Sturg-Weber.

3. Tuberous sclerosis of Bourneville.

4. Systemic angioreticulomatosis of Hippel-Lindau.

5. Ataxia-telangiectasia (Louis-Bar syndrome).

IV. Hereditary systemic degeneration of the nervous system.

1. Diseases with a primary lesion of the cerebellum and its connections. Spino-cerebellar ataxia:

1) Family ataxia of Friedreich.

2) Hereditary ataxia of Pierre-Marie.

3) Olive-cerebellar atrophy of Holmes.

4) Late cortical cerebellar atrophy of Marie-Foix-Alajuanin.

5) Olive-ponto-cerebellar degeneration: a) Menzel type, b) Dejerine-Tom type, c) dento-ruble atrophy.

2. Degenerative diseases with a primary lesion of the pyramidal pathways:

1) Family spastic paraplegia of Strumpel.

2) Syndrome of spastic paraplegia with retinal degeneration.

3) Ferguson-Critchley syndrome is a hereditary-family disease resembling multiple sclerosis.

3. Degenerative diseases of the subcortical ganglia:

1) Parkinson's disease.

2) Chronic Huntington's chorea.

3) Hepato-cerebral dystrophy (Wilson-Konovalov disease).

4) Family calcification of the basal ganglia.

5) Torsion dystonia (deforming muscular dystonia).

6) Double athetosis.

7) Hereditary trembling.

8) Syndrome of Gilles de la Tourette.

9) Progressive familial myoclonus epilepsy.

Neuroretinal degeneration:

1) Lawrence-Moon-Beadle Syndrome.

2) Hereditary atrophy of the optic nerves of Leber.

V. Neuromuscular disease.

1. Spinal amyotrophy:

1) Pediatric amyotrophy Werdnig-Hoffmann.

2) Youth amyotrophy of the Kugelberg-Velander.

3) Progressive spinal amyotrophy of adults Duchenne-Aran.

4) Spinal variant of muscular dystrophy of Landusi-Dejerine. Neurogenic shoulder-shoulder-facial syndrome.

5) Neurogenic form of oculo-pharyngeal atrophy.

2. Neural amyotrophy:

1) Neural amyotrophy of Charcot-Marie-Tooth.

2) Interstitial hypertrophic neuropathy of Dejerine-Sott.

3) Russi-Levy syndrome.

4) Refsum's disease.

3. Primary progressive muscular dystrophies:

1) Pseudo-hypertrophic children - Duchenne type.

2) Favorably current pseudo-hypertrophic - Becker-Keener type.

3) End-belt or juvenile Erba.

4) Shoulder-scapular-facial Landusi-Dejerine.

5) Distal muscular dystrophy.

6) Ocular and oculopharyngeal form.

7) Non-progressive muscular dystrophy.

8) Rigid spine syndrome.

4. Scapular-peroneal amyotrophy of Davidenkov.

5. Myotonia:

1) Thomsen myotonia.

2) Congenital paramiotonia of Eilenburg.

3) Dystrophic myotonia (Hoffmann-Rossolimo-Steinert-Kurshman disease).

4) Neuromyotonia (Isaacs syndrome).

6. Paroxysmal myoplegia and myoplegic syndromes:

1) Hypokalemic paroxysmal myoplegia (Shahnovich-Westphal disease).

2) Hyperkalaemic form (Hamsthorp disease).

3) Normokaliemichesky form.

4) Secondary forms of paroxysmal myoplegia - phenocopies of hereditary diseases in case of thyrotoxicosis, hyperaldosteronism, gastrointestinal diseases accompanied by vomiting, diarrhea, hypothalamic syndromes, hypernatremia, prescription of medications that promote potassium excretion in patients with urethrosigmostomy.

Research methods for patients with hereditary diseases

1. The study of dermatoglyphics.

2. Genealogical.

3. Drawing up karyograms.

4. The twin.

5. The study of immunity.

6. Biochemical analyzes.

7. Electrophysiological research methods:

• EMG;

• The speed of propagation of excitation along motor and sensitive fibers;

• EEG.

8. Biopsy of muscles and nerves.
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Hereditary diseases of the nervous system

    In connection with the insufficient knowledge of the pathogenetic mechanisms of many hereditary diseases of the nervous system, and as a result of their low effectiveness, the prevention of the birth of patients with this pathology is of particular importance. Prevention of hereditary diseases includes a whole range of measures both to protect the human genetic fund by preventing exposure
    The etiological factor of hereditary diseases is a change in the hereditary apparatus of the germ cells of the parents. It is known that hereditary information is stored mainly in the chromosomes of the nucleus, consisting of DNA molecules in combination with proteins, lipids and carbohydrate complexes. DNA is the matrix for the synthesis of various enzymes, and its violation, not accompanied by gross changes
  3. Hereditary diseases of the nervous system
    Inherited Nervous Disease
    Hereditary diseases accompanied by metabolic disorders develop as a result of changes in genetic information. If the formation of a certain trait is presented as reading the hereditary code written on the central nervous system, and implementing it through a complex chain of biochemical transformations, then hereditary metabolic diseases can be considered as a kind, genetically
  5. Causes of nervous diseases and the main forms of disorders of the nervous system
    The external environment interacts closely with the human body. Various adverse changes in external conditions, in particular climatic, the influence of various biological factors, such as pathological agents, can adversely affect the human body and its nervous system. The nature of food, housing conditions, etc. are also important. In some cases, as reasons
  6. Hereditary diseases of the bronchopulmonary system
    IDIOPATHIC LUNG HEMOSIDEROSIS - a condition characterized by deposition of iron in the lungs in the form of hemosiderin (primary or secondary origin) with damage to the small vessels of the lungs and interalveolar septa. The disease is assigned to the group of autosomal recessive phenotypes. ETHIOLOGY AND PATHOGENESIS. It is believed that an important role in the development of hemosiderosis of the lungs belongs to congenital malformation.
  7. Demilienizing diseases of the nervous system. Etiology, pathogenesis, clinical forms of diseases
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  8. Diseases of the nervous system. Diseases accompanied by an increase in intracranial pressure. Cerebrovascular disease. Cerebral infarction. Spontaneous intracranial hemorrhage. Infectious lesions of the central nervous system. Alzheimer's disease. Multiple sclerosis.
    1. The earliest changes in neurons during blood flow arrest 1. cytolysis 4. microvacuolization 2. tigrolysis 5. wrinkling of neurons 3. hyperchromatosis 2. The most common causes of cerebral infarction 1. stenotic atherosclerosis 2. thromboembolism 3. true polycythemia 4. thrombosis 5. embolism fatty with a fracture of the tubular bones 3. Cerebral edema of the cytotoxic type occurs at 1.
  9. Dysfunction of the nervous system caused by a hereditary metabolic disorder
    Disorders of the nervous system during congenital metabolic disorders arise as a result of the influence of several factors: • direct damage to nerve cells due to an enzyme deficiency; • accumulation of certain unsplit metabolic products in the outside of the cell fluid; • damage to other organs (eg, liver); • damage to cerebral vessels.
  10. Metabolic diseases of the central nervous system
    Many metabolic diseases are inherited in an autosomal recessive manner, and some of them in an X-linked, recessive manner (see chapter 8). Hereditary metabolic defects disrupt the metabolism of many substances: lipids, carbohydrates, glycosaminoglycans (mucopolysaccharides), amino acids and trace elements. In some metabolic diseases, pathological changes begin with
  11. Infectious diseases of the nervous system
    Infectious diseases of the nervous system are quite common. They are caused by bacteria, viruses, fungi, protozoa. Neurological disorders can develop as a result of direct penetration of the pathogen into the nervous system (neuroinfection). Sometimes they develop against the background of other diseases. The selectivity of brain damage in neuroinfections is due to the so-called
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