A patient with both Charcot-Marie-Tooth disease (CMT 1A) and mild spinal muscular atrophy (SMA 3)

Maria Jedrzejowska; Barbara Ryniewicz; Dagmara Kabzińska; Hanna Drac; Irena Hausmanowa-Petrusewicz; Andrzej Kochański

doi:10.1016/j.nmd.2008.02.001

A patient with both Charcot-Marie-Tooth disease (CMT 1A) and mild spinal muscular atrophy (SMA 3)

Neuromuscul Disord. 2008 Apr;18(4):339-41. doi: 10.1016/j.nmd.2008.02.001. Epub 2008 Mar 11.

Authors

Maria Jedrzejowska¹, Barbara Ryniewicz, Dagmara Kabzińska, Hanna Drac, Irena Hausmanowa-Petrusewicz, Andrzej Kochański

Affiliation

¹ Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, Ul. Pawińskiego 5, 02-106 Warsaw, Poland.

PMID: 18337101
DOI: 10.1016/j.nmd.2008.02.001

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Charcot-Marie-Tooth Disease / complications*
Charcot-Marie-Tooth Disease / genetics
Child
Chromosomes, Human, Pair 17
Exons / genetics
Family Health*
Female
Humans
Phenotype
Poland
Spinal Muscular Atrophies of Childhood / complications*
Spinal Muscular Atrophies of Childhood / genetics