Vacuolar Myopathy Associated to CACNA1S Mutation as a Rare Cause of Late-Onset Limb-Girdle Myopathy: A Case Report
Year: 2021
Type: article
Study design: Case Report
Abstract: Late-onset limb-girdle myopathies pose a diagnostic challenge. The most common etiologies are inflammatory, followed by genetic and metabolic. Rare cases include limb-girdle dystrophies and permanent myopathies (vacuolar), such as those associated with hypokalemic periodic paralysis (HypoPP). We present the case of a 59-year-old male who initiated with episodic acute severe weakness when he was 11, during which serum potassium levels of <2.5 meq/L were revealed during workup. Potassium reposition reversed these episodes. They occurred every three to five years, and the last episode was five years prior to the current illness. When he was 58, he presented progressive pelvic girdle weakness. On examination, he presented decreased strength in the iliopsoas and quadriceps. The laboratory results showed mildly elevated creatine kinase. Muscle biopsy revealed a vacuolar myopathy, and genetic testing identified a pathogenic variant in the CACNA1S gene, locus 1q32.1
Source: Cureus
DOI: 10.7759/cureus.18873
Authors: Juan Carlos López-Hernández, Javier A Galnares-Olalde, Edmar Benitez-Alonso, Raul E Alcalá, Edwin Steven Vargas-Cañas
Institution: Instituto Nacional de Neurología y Neurocirugía
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W3206005941