Clinical and electrophysiological characteristics of autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2B) that maps to chromosome 19q13.3

• Published in: Neuromuscular disorders : NMD Vol. 14; no. 5; pp. 301 - 306
• Main Authors: Berghoff, Corinna, Berghoff, Martin, Leal, Alejandro, Morera, Bernal, Barrantes, Ramiro, Reis, André, Neundörfer, Bernhard, Rautenstrauss, Bernd, Del Valle, Gerardo, Heuss, Dieter
• Format: Journal Article
• Language: English
• Published: England Elsevier B.V 01.05.2004
• Subjects: Action Potentials - physiology; Adult; Age of Onset; Atrophy - physiopathology; Autosomal recessive; Axonal degeneration; Charcot-Marie-Tooth disease; Charcot-Marie-Tooth Disease - genetics; Charcot-Marie-Tooth Disease - physiopathology; Chromosome Mapping; Chromosomes, Human, Pair 19; Costa Rica - ethnology; Electromyography - methods; Electrophysiology - methods; Family Health; Female; Hereditary neuropathy; Humans; Male; Middle Aged; Muscle, Skeletal - physiopathology; Neural Conduction - physiology; Pedigree; Peripheral Nerves - physiopathology; Reaction Time - physiology; Reflex, Stretch - physiology; Costa Rica; Autosomal recessive; Charcot-Marie-Tooth disease; Axonal degeneration; Hereditary neuropathy
• ISSN: 0960-8966; 1873-2364
• DOI: 10.1016/j.nmd.2004.02.004

Charcot-Marie-Tooth disease (CMT) comprises a heterogeneous group of hereditary motor and sensory peripheral neuropathies. The autosomal recessive axonal form of CMT (ARCMT2) is rare. 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 patients are reported. All patients presented with a symmetric motor and sensory neuropathy, which was more pronounced in the lower limbs. Further, 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 years. Electrophysiological studies revealed a primary axonal degenerative process. The clinical characteristics of this family differed in several aspects from previously reported families with ARCMT2.