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Updated: Jul 6, 2026

In Vivo Electrophysiological Measurement of Compound Muscle Action Potential from the Forelimbs in Mouse Models of Motor Neuron Degeneration
Published on: June 15, 2018
A patient with both Charcot-Marie-Tooth disease (CMT 1A) and mild spinal muscular atrophy (SMA 3)
Maria Jedrzejowska1, Barbara Ryniewicz, Dagmara Kabzińska
1Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, Ul. Pawińskiego 5, 02-106 Warsaw, Poland.
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.
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