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Copyright 1980 - 2007 V. Ventruto / A. Di Luccio Genus database 5070 Charcot-Marie-Tooth neuropathy, type 1B-1C Eponyms: Inheritance: CMT1B CMT1C hereditary motor sensory neuropathy I HMSN I peroneal muscular atrophy CharcotMarie-Tooth I slow nerve conduction form of CMT autosomal dominant Semeiological Neuro-skeletal disorder. Pes cavus, scoliosis, peroneal muscle weakness, legs atrophy, claw-like hands. Synthesis: Group Sub group Signs: CARDIOVASCULAR DISORDERS cardiac congenital defects heart conduction defects, cardiac arrhythmia, including tachycardia, atrial fibrillation, ventricular fibrillation DERMATOLOGICAL DISORDERS sebaceous-sudoriparous glands, changes hyperhydrosis, diaphoresis, hyperhidrosis GASTROINTESTINAL DISORDERS intestinal dysfunctions malabsorption, including diarrhea vomit HEMOPOIETIC-LYMPHORETICULAR SYSTEM DISORDERS spleen, anomalies spleen malformed multilobed cystic LABORATORY DATA chromosomal assignment chromosome 16p localization chromosome 1q localization gene, structural-functional anomalies CMT1B (MPZ) myelin protein zero, gene chr.1q22 CMT1C, gene chr.16p13.1-p12.3 CNCG tissue cyclic nucleotide gated channel photoreceptor gene analysis-DNA analysis LITAF, gene chr.16p13.3-p12 PMP22 (CMT1A, CMT1E) peripheral myelin protein-22, gene chr.17p11.2 tissue, biochemical changes cyclic guanine monophosphate phosphodiesterase dysfunction, cGMP-PDE dysfunction MUSCULAR DISEASES muscular defects, distrectual peroneal muscular atrophy, hypotrophy systemic muscular defects hypotonia, muscular weakness, muscular hypoplasia, myastenia, not including atyrophy muscular, neurogenic atrophy NEUROLOGICAL DISORDERS basal ganglia, disorders myoclonus, including jerks neurological dysfunctions axonal neuropathy Charcot-Marie-Tooth neuropathy Charcot-Marie-Tooth neuropathy, type 1B-1C Page 1 of 3 Copyright 1980 - 2007 V. Ventruto / A. Di Luccio Genus database demyelinating neuropathy peripheral neuropathy, including: polyneuropathy, neuralgia tremor, tremulousness OTHERS inheritance inheritance, autosomal dominant supergroups cardio-gastrointestinal-skeletal disorders cardio-neuro-skeletal disorders PRENATAL-NEONATAL MODIFIED DATA foetal changes foetal changes, recognized by laboratory data prenatal diagnosis prenatal diagnosis, molecular SKELETAL DISORDERS hand-foot, changes foot dropping pes cavus, clawfoot spine, changes scoliosis, kyphoscoliosis Super group: cardio-gastrointestinal-skeletal disorders cardio-neuro-skeletal disorders Super aggreg. FOETAL CHANGES foetal changes, recognized by laboratory data Aggregations: ISOLATED NEUROLOGICAL DISORDERS Charcot-Marie-Tooth neuropathy MUSCULAR DISORDERS muscular, neurogenic atrophy OTHER axonal neuropathy demyelinating neuropathy Differential diagnosis: 9972 Castle syndrome 5080 Charcot-Marie-Tooth neuropathy ataxiatremor syndrome 5090 Charcot-Marie-Tooth neuropathy deafness syndrome 9285 Charcot-Marie-Tooth neuropathy, Evgrafov type 5096 Charcot-Marie-Tooth neuropathy, recessive type 28631 Charcot-Marie-Tooth neuropathy, type 1A 5095 Charcot-Marie-Tooth neuropathy, type 2A 9673 Charcot-Marie-Tooth neuropathy, type 2E 9672 Charcot-Marie-Tooth neuropathy, type 2F 2152 Charcot-Marie-Tooth neuropathy, type 2G, 2I 9975 Charcot-Marie-Tooth neuropathy, type 4E 28688 Charcot-Marie-Tooth neuropathy, type D 5098 Charcot-Marie-Tooth neuropathy, X-linked 1 9973 Charcot-Marie-Tooth neuropathy, X-linked 3 7245 Dejerine-Sottas disease 28208 Kalaydjieva disease 16830 Moebius syndrome 16831 Moebius Syndrome 3 17230 muscular atrophy malignant, neurogenic type 17260 muscular dystrophy, Barnes type 26710 myopathia distalis tarda hereditaria 105 myopathy, distal 2 9964 peroneal muscular atrophy-pyramidal features Charcot-Marie-Tooth neuropathy, type 1B-1C Page 2 of 3 Copyright 1980 - 2007 V. Ventruto / A. Di Luccio Genus database 22320 22930 22985 24080 24068 13 26760 Refsum syndrome, adult type Roussy-Levy syndrome Ruiz neuropathy syndrome spinal muscular atrophy, distal type spinal muscular atrophy, segmental tibial muscular dystrophy, tardive Wieacker syndrome Aggregation(s) [in differential diagnosis]: - Charcot-Marie-Tooth neuropathy - muscular, neurogenic atrophy Bibliography OMIM ID: 118200 OMIM ID: 601097 OMIM ID: 159440 OMIM ID: 601098 OMIM ID: 603795 Annuario Orphanet-Italia delle Malattie Rare 2005, pag. 177 Emery&Rimoin's: Principles and Practice of Medical Genetics. Church. Livingstone. p.29462962,2007 Charcot-Marie-Tooth neuropathy, type 1B-1C Page 3 of 3
