A patient with both CMT 1A and mild SMA 3 (spinal muscular atrophy)

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A patient with both Charcot-Marie-Tooth disease (CMT 1A) and mild

spinal muscular atrophy (SMA 3)

Neurological Disorders Vol. 18 Issue 4 339-341 April 2008

Jêdrzejowskaa1, Barbara Ryniewiczb1, Dagmara Kabziñskaa, Hanna

Dracab, Irena Hausmanowa-Petrusewicza, Andrzej Kochañskia

Abstract

In the present study, we report a single Polish SMA family in which

the 17p11.2–p12 duplication causative for the Charcot-Marie-Tooth

type 1A disease (CMT1A) was found in addition to a deletion of exons

7 and 8 of the SMN1 gene. A patient harboring both SMA and CMT1A

mutations manifested with SMA3 phenotype and foot deformity. Her

electrophysiological testing showed chronic neurogenic changes in

proximal muscles that are typical for SMA, but also slowed conduction

velocity in motor and sensory fibers that is typical for

demyelinating neuropathy.