Caveolinopathy – New mutations and additional symptoms

• DOI: 10.1016/j.nmd.2008.05.003
• Publication Date: 2008-06-26T05:05:53Z
• Authors: Ahmed Aboumousa; Jessica Hoogendijk; Richard Charlton; Rita Barresi; Ralf Herrmann; Thomas Voit; Judith Hudson; Mark Roberts; David Hilton-Jones; Michelle Eagle; Kate Bushby; Volker Straub
• Keywords: Adult; Family Health; Male; 0301 basic medicine; Muscle Weakness; Caveolin 3; DNA Mutational Analysis; Myoglobinuria; Medizin; Muscle Proteins; Middle Aged; Hypoglycemia; United Kingdom; 3. Good health; Cohort Studies; 03 medical and health sciences; Muscular Diseases; Mutation; Humans; Female; Genetic Predisposition to Disease; Child; Muscle, Skeletal

Mutations in the caveolin-3 gene (CAV3) can lead to a broad spectrum of clinical phenotypes. Phenotypes that have so far been associated with primary caveolin-3 deficiency include limb girdle muscular dystrophy, rippling muscle disease, distal myopathy and hyperCKaemia. This is the first report describing the clinical, pathological and genetic features of patients with caveolinopathy from the UK. Ten patients (six families) were identified via the National Commissioning Group (NCG) service for patients with limb girdle muscle dystrophy in Newcastle. Myalgia was the most prominent symptom in our cohort of patients and for 50% it was the reason for referral. Muscle weakness was only found in 60% of the patients, whereas rippling muscle movement was present in 80%. One of the patients reported episodes of myoglobinuria and another one episodes of hypoglycaemia. Five different mutations were identified, two of which were novel and three that had previously been described. Caveolinopathy needs to be considered as a differential diagnosis in a range of clinical situations, including in patients who do not have any weakness. Indeed, rippling muscles are a more frequent symptom than weakness, and can be detected in childhood. Presentation with myalgia is common and management of it as well as of myoglobinuria and hypoglycaemia may have a major impact on the patients' quality of life.