• Neuromuscul. Disord. · May 2021

    Case Reports

    Third case of Duchenne muscular dystrophy and West syndrome: Expanding the spectrum of the DMD neuropsychiatric phenotype.

    • Christian Peña-Padilla, Ivón Romero-Valenzuela, Alejandra Baldomero-López, Ana Karen Sandoval-Talamantes, Abril Castellanos-González, Peter L Nagy, Rebecca R Kelly, and Jorge Román Corona-Rivera.
    • Center for Registry and Research in Congenital Anomalies (CRIAC), Service of Genetics, Pediatric Division, "Dr. Juan I. Menchaca" Civil Hospital of Guadalajara, Guadalajara, Mexico.
    • Neuromuscul. Disord. 2021 May 1; 31 (5): 462-465.

    AbstractDuchenne muscular dystrophy is an X-Linked neuromuscular disorder, and the most common muscular dystrophy. Neuropsychiatric phenotype associated to DMD gene mutations include now low IQ scores, epilepsy, autism, and attention deficit disorder. These have been observed with higher frequency in mutations that disrupt the short isoforms Dp71 and Dp140. West syndrome has been previously reported in two unrelated patients with Duchenne muscular dystrophy. Here, we report the third patient with West syndrome who had a novel hemizygous nonsense pathogenic variant in the exon 8 of the DMD gene c.811C>T, p.(Gln271*), suggesting West syndrome as part of the neuropsychiatric spectrum in Duchenne muscular dystrophy.Copyright © 2021 Elsevier B.V. All rights reserved.

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