Autosomal dominant axonal Charcot-Marie-Tooth disease type 2 (CMT2G) maps to chromosome 12q12-q13.3
Open Access
- 1 March 2004
- journal article
- letter
- Published by BMJ in Journal of Medical Genetics
- Vol. 41 (3) , 193-197
- https://doi.org/10.1136/jmg.2003.012633
Abstract
We previously described a large Spanish family diagnosed with autosomal dominant CMT2.18 For this study, we enlarged the pedigree to 28 people, of whom 14 were diagnosed as affected (fig 1). The age at onset was 9–76 (mean 29) years. Most patients developed symptoms in the second decade of life. The disease, which presented with foot deformity and difficulty walking, showed a very slow progression. Patients were mildly disabled. Ankle reflexes were absent or hypoactive in all patients, whereas knee reflexes sometimes were preserved. Mild stocking hypaesthesia was seen. The upper limbs were involved in only two patients. Scoliosis, pupillary abnormalities, foot ulcers, deafness, diaphragm and vocal cord paralysis, nerve enlargement, optic atrophy, tremor, and ataxia were absent.Keywords
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