Charcotova-Marieova-Toothova nemoc [Charcot-Marie-Tooth Disease]
- Termíny
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Charcot-Marie-Toothova choroba
Charcotova-Marieova-Toothova nemoc, typ I
Charcotova-Marieova-Toothova nemoc, typ Ia
Charcotova-Marieova-Toothova nemoc, typ Ib
CMT
hereditární motorické a senzitivní neuropatie, typ 1A
hereditární motorické a senzitivní neuropatie, typ 1B
hereditární motorické a senzitivní neuropatie, typ I
hereditární motorické a senzitivní neuropatie, typ II
HMSN typ I
HMSN typ II
syndrom Roussy-Levyové
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Atrophy, Muscular, Peroneal
Charcot-Marie Disease
Charcot-Marie-Tooth Disease, Autosomal Dominant, With Focally Folded Myelin Sheaths, Type 1A
Charcot-Marie-Tooth Disease, Autosomal Dominant, with Focally Folded Myelin Sheaths, Type 1B
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Charcot-Marie-Tooth Disease, Slow Nerve Conduction Type, Linked To Duffy
Charcot-Marie-Tooth Disease, Type 1A
Charcot-Marie-Tooth Disease, Type 1B
Charcot-Marie-Tooth Disease, Type I
Charcot-Marie-Tooth Disease, Type IA
Charcot-Marie-Tooth Disease, Type IB
Charcot-Marie-Tooth Disease, Type II
Charcot-Marie-Tooth Hereditary Neuropathy
Charcot-Marie-Tooth Neuropathy, Type 1A
Charcot-Marie-Tooth Neuropathy, Type 1B
Charcot-Marie-Tooth Syndrome
Hereditary Areflexic Dystasia
Hereditary Motor and Sensory Neuropathy 1A
Hereditary Motor and Sensory Neuropathy 1B
Hereditary Motor and Sensory Neuropathy IA
Hereditary Motor And Sensory Neuropathy IB
Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor, and Sensory Neuropathy Type I
Hereditary Type I Motor and Sensory Neuropathy
HMN Distal Type I
HMSN 1A
HMSN 1B
HMSN I
HMSN IA
HMSN IB
HMSN II
HMSN Type I
HMSN Type II
HMSN1A
HMSN1B
Muscular Atrophy, Peroneal
Neuropathy, Type I Hereditary Motor and Sensory
Neuropathy, Type II Hereditary Motor and Sensory
Peroneal Muscular Atrophy
Roussy Levy Hereditary Areflexic Dystasia
Roussy-Levy Disease
Roussy-Levy Hereditary Areflexic Dystasia
Roussy-Levy Syndrome
Peroneální svalová atrofie, autozomálně dominantně dědičná porucha periferního nervstva postihující zejm. předloktí a lýtka. Nejčastěji se vyskytující hereditární neuropatie. Dědičnost je nejč. autozomálně dominantní (lokus 17p11.2 - duplikace genu pro myelinový protein), ale také recesivní s vazbou na X chromozom (lokus Xq13.1). Manifestuje se kolem 2. roku života zejm. atrofií svalů lýtka, dítě má typickou chůzi (kohoutí chůze), jako by stepovalo. Senzorické poškození se projeví parestezií, autonomní postižení nervů se projeví nejč. v dospělosti poruchou cévní mikrocirkulace (chladné nohy). Léčba spočívá ve stabilizaci kotníků a ochraně před zraněním, popř. chirurgické korekci zkrácených šlach. Onemocnění nezkracuje život. (cit. Velký lékařský slovník online, 2018 http://lekarske.slovniky.cz)
A hereditary motor and sensory neuropathy transmitted most often as an autosomal dominant trait and characterized by progressive distal wasting and loss of reflexes in the muscles of the legs (and occasionally involving the arms). Onset is usually in the second to fourth decade of life. This condition has been divided into two subtypes, hereditary motor and sensory neuropathy (HMSN) types I and II. HMSN I is associated with abnormal nerve conduction velocities and nerve hypertrophy, features not seen in HMSN II. (Adams et al., Principles of Neurology, 6th ed, p1343)
- DUI
- D002607 MeSH Prohlížeč
- CUI
- M0003994
- Historická pozn.
- 2000(1966)
- Veřejná pozn.
- 2000; see CHARCOT-MARIE DISEASE 1991-1999, see MUSCULAR ATROPHY, SPINAL 1988-1990, see MUSCULAR ATROPHY 1966-1987; for CHARCOT-MARIE-TOOTH DISEASE see CHARCOT-MARIE DISEASE 1991-1999
Povolená podhesla
- CI
- chemicky indukované
- SU
- chirurgie 5
- HI
- dějiny
- DG
- diagnostické zobrazování
- DI
- diagnóza 63
- DH
- dietoterapie
- EC
- ekonomika
- EM
- embryologie
- EN
- enzymologie
- EP
- epidemiologie 2
- ET
- etiologie 11
- EH
- etnologie 4
- DT
- farmakoterapie 2
- GE
- genetika 85
- IM
- imunologie
- CL
- klasifikace 9
- CO
- komplikace 10
- BL
- krev 2
- ME
- metabolismus 5
- MI
- mikrobiologie 1
- UR
- moč
- MO
- mortalita 1
- CF
- mozkomíšní mok
- NU
- ošetřování 1
- PS
- parazitologie
- PP
- patofyziologie 15
- PA
- patologie 16
- PC
- prevence a kontrola 1
- PX
- psychologie 3
- RT
- radioterapie
- RH
- rehabilitace 9
- TH
- terapie 29
- VE
- veterinární
- VI
- virologie
Charcot Marie Tooth type 1 aplasia cutis congenita Disease MeSH Prohlížeč
Charcot-Marie-Tooth Disease, Autosomal Dominant, Type 2k Disease MeSH Prohlížeč
Charcot-Marie-Tooth Disease, Axonal, Type 2A2 Disease MeSH Prohlížeč
Charcot-Marie-Tooth Disease, Axonal, Type 2a1 Disease MeSH Prohlížeč
Charcot-Marie-Tooth Disease, Axonal, Type 2n Disease MeSH Prohlížeč
Charcot-Marie-Tooth Disease, Demyelinating, Type 1e Disease MeSH Prohlížeč
Charcot-Marie-Tooth Disease, Dominant Intermediate A Disease MeSH Prohlížeč
Charcot-Marie-Tooth Disease, Dominant Intermediate B Disease MeSH Prohlížeč
Charcot-Marie-Tooth Disease, Dominant Intermediate C Disease MeSH Prohlížeč
Charcot-Marie-Tooth Disease, Dominant Intermediate D Disease MeSH Prohlížeč
Charcot-Marie-Tooth Disease, Foot Deformity of Disease MeSH Prohlížeč
Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type Disease MeSH Prohlížeč
Charcot-Marie-Tooth Disease, Recessive Intermediate A Disease MeSH Prohlížeč
Charcot-Marie-Tooth Disease, Type 4H Disease MeSH Prohlížeč
Charcot-Marie-Tooth Disease, Type 4j Disease MeSH Prohlížeč
Charcot-Marie-Tooth Neuropathy, Dominant Intermediate B, with Neutropenia Disease MeSH Prohlížeč
Charcot-Marie-Tooth Neuropathy, Type 4B2, with Early-Onset Glaucoma Disease MeSH Prohlížeč
Charcot-Marie-Tooth Peroneal Muscular Atrophy and Friedreich Ataxia, Combined Disease MeSH Prohlížeč
Charcot-Marie-Tooth disease and deafness Disease MeSH Prohlížeč
Charcot-Marie-Tooth disease with ptosis and parkinsonism Disease MeSH Prohlížeč
Charcot-Marie-Tooth disease, Type 1C Disease MeSH Prohlížeč
Charcot-Marie-Tooth disease, Type 1D Disease MeSH Prohlížeč
Charcot-Marie-Tooth disease, Type 1E Disease MeSH Prohlížeč
Charcot-Marie-Tooth disease, Type 1F Disease MeSH Prohlížeč
Charcot-Marie-Tooth disease, Type 2A Disease MeSH Prohlížeč
Charcot-Marie-Tooth disease, Type 2B Disease MeSH Prohlížeč
Charcot-Marie-Tooth disease, Type 2B1 Disease MeSH Prohlížeč
Charcot-Marie-Tooth disease, Type 2B2 Disease MeSH Prohlížeč
Charcot-Marie-Tooth disease, Type 2C Disease MeSH Prohlížeč
Charcot-Marie-Tooth disease, Type 2D Disease MeSH Prohlížeč
Charcot-Marie-Tooth disease, Type 2E Disease MeSH Prohlížeč
Charcot-Marie-Tooth disease, Type 2F Disease MeSH Prohlížeč
Charcot-Marie-Tooth disease, Type 2H Disease MeSH Prohlížeč
Charcot-Marie-Tooth disease, Type 2I Disease MeSH Prohlížeč
Charcot-Marie-Tooth disease, Type 2J Disease MeSH Prohlížeč
Charcot-Marie-Tooth disease, Type 2K Disease MeSH Prohlížeč
Charcot-Marie-Tooth disease, Type 4A Disease MeSH Prohlížeč
Charcot-Marie-Tooth disease, Type 4A, axonal form Disease MeSH Prohlížeč
Charcot-Marie-Tooth disease, Type 4B1 Disease MeSH Prohlížeč
Charcot-Marie-Tooth disease, Type 4B2 Disease MeSH Prohlížeč
Charcot-Marie-Tooth disease, Type 4B2, with early-onset glaucoma Disease MeSH Prohlížeč
Charcot-Marie-Tooth disease, Type 4C Disease MeSH Prohlížeč
Charcot-Marie-Tooth disease, Type 4E Disease MeSH Prohlížeč
Charcot-Marie-Tooth disease, X-linked recessive, 2 Disease MeSH Prohlížeč
Charcot-Marie-Tooth disease, X-linked recessive, 3 Disease MeSH Prohlížeč
Charcot-Marie-Tooth disease, X-linked, 1 Disease MeSH Prohlížeč
Charcot-Marie-Tooth disease, dominant intermediate 1 Disease MeSH Prohlížeč
Charcot-Marie-Tooth disease, dominant intermediate 2 Disease MeSH Prohlížeč
Charcot-Marie-Tooth disease, dominant intermediate 3 Disease MeSH Prohlížeč
Cowchock syndrome Disease MeSH Prohlížeč
Hereditary Motor And Sensory Neuropathy, Type IIC Disease MeSH Prohlížeč
Keratoderma palmoplantar spastic paralysis Disease MeSH Prohlížeč
Neuropathy, Distal Hereditary Motor, Type IIA Disease MeSH Prohlížeč
Neuropathy, hereditary motor and sensory, LOM type Disease MeSH Prohlížeč
Polyneuropathy, Mixed, of Early Onset Disease MeSH Prohlížeč