Charcot-Marie-Tooth disease, type 2A2

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Prevalence (%) of clinical parameters based on data from 2 references describing 36 individuals

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Pubmed id number as a reference Organ system affected
Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
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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,

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,

Archives of neurology - Dec 2009