artículo científico
Clinical and electrophysiological characteristics of autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2B) that maps to chromosome 19q13.3
Fecha
2004Registro en:
dx.doi.org/10.1016/j.nmd.2004.02.004
Autor
Berghoff, Corinna
Berghoff, Martin
Leal Esquivel, Alejandro
Morera Brenes, Bernal
Reis, André
Neundörfer, Bernhard
Bernd, Rautenstrauss
del Valle Carazo, Gerardo
Heuss, Dieter
Institución
Resumen
Cbarcot-Marie-Tooth disease (CMT) comprises a heterogeneous group of hereditary motor and sensory peripheral neuropathies. The
autosomal recessive axonal form of CMT (ARCMT2) is ram. Eight patients of a large consanguineous family of Spanish ancestry in Costa
Rica were diagnosed with ARCMT2B; previous genetic studies of this family revealed linkage to chromosome 19q13.3. The clinical and
electrophysiological features of these patieets are reported. All patients presented with a symmetric motor and sensory neuropathy. which
was more pronounced in the lower limbs. Ftuther, distal muscle wasting and impaired deep tendon reflexes were found. Age at onset was
between 26 and 42 years, and the disease duration ranged from 2 to 19 yours. Electrophysiological medics revealed a primary tumuli
degenerative process. The clinical characteristics of this family differed in several aspects from previously reported families with ARCMT2.