Charcot-Marie-Tooth disease, type 2A2
CMT2A2

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Description from OMIM

Charcot-Marie-Tooth disease constitutes a clinically and genetically heterogeneous group of hereditary motor and sensory neuropathies. On the basis of electrophysiologic criteria, CMT is divided into 2 major types: type 1, the demyelinating form, characterized by a slow motor median nerve conduction velocity (NCV) (less than 38 m/s), and type 2, the axonal form, with a normal or slightly reduced NCV. Distal hereditary motor neuropathy (dHMN), also known as spinal CMT, is a third type of CMT characterized by normal motor and sensory NCV and degeneration of spinal cord anterior horn cells. See CMT1B (118200) and CMT1A (118220) for descriptions of autosomal dominant slow nerve conduction types of Charcot-Marie-Tooth disease. See CMT4A (214400) and CMTX1 (302800) for autosomal recessive and X-linked forms of Charcot-Marie-Tooth disease, respectively. For a discussion of genetic heterogeneity of CMT type 2, see 118210.



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List of symptoms



Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Muscle weakness nervous 100 % 11148244 2013-12-11
Areflexia nervous 100 % 11148244 2013-12-11
Pes cavus skeletal 100 % 11148244 2013-12-11
Hearing loss nervous 32 % 20008656 2013-12-11
Pyramidal signs nervous 24 % 20008656 2013-12-11
Optic atrophy nervous 20 % 20008656 2013-12-11
Kyphosis skeletal 12 % 20008656 2013-12-11
Lipodystrophy integumentary 12 % 20008656 2013-12-11
Cognitive deficits nervous 12 % 20008656 2013-12-11



List of references:


Clinical and genetic study of a large Charcot-Marie-Tooth type 2A family from southern Italy.
M Muglia, M Zappia, V Timmerman, P Valentino, A L Gabriele, F L Conforti, P De Jonghe, M Ragno, R Mazzei, M Sabatelli, G Nicoletti, A M Patitucci, R L Oliveri, F Bono, A Gambardella, A Quattrone,

The authors report a large pedigree from southern Italy with Charcot-Marie-Tooth disease type 2A (CMT2A). The clinical picture was uniform and characterized by distal muscular weakness and atrophy in the lower limbs, reduced or absent tendon reflexes mainly in the lower limbs, and mild sensory impairment in the feet. Significant linkage to the CMT2A locus on chromosome 1p35-p36 was detected. Based on informative recombination in affected individuals, the authors mapped the CMT2A gene between D1S160 and D1S170.

Neurology - Jan 2001



Genotype-phenotype correlations in Charcot-Marie-Tooth disease type 2 caused by mitofusin 2 mutations.
Judith Calvo, Benoît Funalot, Robert A Ouvrier, Leila Lazaro, Annick Toutain, Philippe De Mas, Pierre Bouche, Brigitte Gilbert-Dussardier, Marie-Christine Arne-Bes, Jean-Pierre Carrière, Hubert Journel, Marie-Christine Minot-Myhie, Claire Guillou, Karima Ghorab, Laurent Magy, Franck Sturtz, Jean-Michel Vallat, Corinne Magdelaine,

Mutations in the gene encoding mitofusin 2 (MFN2) cause Charcot-Marie-Tooth disease type 2 (CMT2), with heterogeneity concerning severity and associated clinical features.

Archives of neurology - Dec 2009