Vacuolar Myopathy Associated to CACNA1S Mutation as a Rare Cause of Late-Onset Limb-Girdle Myopathy: A Case Report

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 pre...

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Bibliographic Details
Published in:Curēus (Palo Alto, CA) CA), 2021-10, Vol.13 (10)
Main Authors: López-Hernández, Juan Carlos, Galnares-Olalde, Javier A, Benitez-Alonso, Edmar, Alcalá, Raul E, Vargas-Cañas, Edwin Steven
Format: Article
Language:English
Subjects:
Biopsy
Carbohydrates
Case reports
Child development
Disease
Exercise
Genes
Guillain-Barre syndrome
Kinases
Laboratories
Metabolism
Muscle strength
Mutation
Neurology
Neuromuscular diseases
Paralysis
Patients
Physical fitness
Potassium
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Summary: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 A (p.Arg1239His), heterozygous state].
ISSN:2168-8184
2168-8184
DOI:10.7759/cureus.18873