Rare Costa Rican AR CMT 2B Research from Germany

[Guest guest]

Research from Neuromuscul Disord. 2004 May;14(5):301-6. Related

Articles, Links

Clinical and electrophysiological characteristics of autosomal recessive

axonal Charcot-Marie-Tooth disease (ARCMT2B) that maps to chromosome

19q13.3.

Berghoff C, Berghoff M, Leal A, Morera B, Barrantes R, Reis A,

Neundorfer B, Rautenstrauss B, Del Valle G, Heuss D.

Department of Neurology, University of Erlangen-Nuremberg, Erlangen,

Germany.

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.