A patient with both CMT1A and mild spinal muscular atropy (SMA3)

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Neuromuscul Disord. 2008 Mar 10

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

spinal muscular atrophy (SMA 3).

Jêdrzejowska M, Ryniewicz B, Kabziñska D, Drac H, Hausmanowa-

Petrusewicz I, Kochañski A.

Neuromuscular Unit, Mossakowski Medical Research Centre, Polish

Academy of Sciences, Ul. Pawiñskiego 5, 02-106 Warsaw, Poland.

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.