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Copyright 1980 - 2007 V. Ventruto / A. Di Luccio Genus database 5101 Charcot Marie Tooth neuropathy X-linked 1 and 3 Eponyms: Inheritance: Charcot Marie Tooth-peroneal muscular atrophy X-linked CMTX1 CMTX3 HMSN X-linked motor sensory neuropathy X-linked X-linked dominant Semeiological Neurological disorder, isolated defect. Ambulation disability due to slowly progressive peroneal muscle weakness and wasting, pes cavus, scoliosis, difficulties in walking,foot drop and steppage gait, atrophy of the Synthesis: small muscle hands, occasionally upper extremity tremor. Group Sub group Signs: LABORATORY DATA chromosomal assignment chromosome X localization chromosome Xq localization gene, structural-functional anomalies CMTX1 (GJB1) (CX32) connexin 32, gap junction protein beta-1, 32kD, gene chr.Xq13.1 CMTX3, gene chr.Xq26 gene analysis-DNA analysis 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 neurological dysfunctions axonal neuropathy demyelinating neuropathy nerve conduction defect peripheral neuropathy, including: polyneuropathy, neuralgia tremor, tremulousness OTHERS inheritance inheritance, X-linked dominant PRENATAL-NEONATAL MODIFIED DATA foetal changes foetal changes, recognized by laboratory data prenatal diagnosis prenatal diagnosis, molecular SKELETAL DISORDERS hand-foot, changes pes cavus, clawfoot spine, changes scoliosis, kyphoscoliosis Super group: Super aggreg. FOETAL CHANGES foetal changes, recognized by laboratory data Aggregations: MUSCULAR DISORDERS muscular, neurogenic atrophy OTHER axonal neuropathy demyelinating neuropathy Charcot Marie Tooth neuropathy X-linked 1 and 3 Page 1 of 2 Copyright 1980 - 2007 V. Ventruto / A. Di Luccio Genus database Differential diagnosis: 9972 9975 5098 5099 8732 Castle syndrome Charcot-Marie-Tooth neuropathy, type 4E Charcot-Marie-Tooth neuropathy, X-linked 1 Charcot-Marie-Tooth neuropathy, X-linked 2 Charcot-Marie-Tooth, intermediate type AB-C-D 9964 peroneal muscular atrophy-pyramidal features 24068 spinal muscular atrophy, segmental 13 tibial muscular dystrophy, tardive Aggregation(s) [in differential diagnosis]: - Charcot-Marie-Tooth neuropathy - muscular, neurogenic atrophy Bibliography OMIM ID: 302800 OMIM ID: 302802 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 X-linked 1 and 3 Page 2 of 2
