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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.
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.
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.
3. Drawing up karyograms.
4. The twin.
5. The study of immunity.
6. Biochemical analyzes.
7. Electrophysiological research methods:
• The speed of propagation of excitation along motor and sensitive fibers;
8. Biopsy of muscles and nerves.
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Hereditary diseases of the nervous system
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