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Case Reports
. 2012 Jan;22(1):13-5.
doi: 10.1016/j.nmd.2011.07.005. Epub 2011 Aug 4.

Amyloidosis and exercise intolerance in ANO5 muscular dystrophy

Margherita Milone  1 , Teerin Liewluck, Thomas L Winder, Paolo T Pianosi
Affiliations
Case Reports

Amyloidosis and exercise intolerance in ANO5 muscular dystrophy

Margherita Milone et al. Neuromuscul Disord. 2012 Jan.

Abstract

Anoctamin 5 and dysferlin mutations can result in myopathies with similar clinical phenotype. Amyloid deposits can occur in the muscle of patients with dysferlinopathy. We describe a 53-year-old woman with exercise intolerance since childhood, recurrent rhabdomyolysis and late-onset weakness. Muscle biopsy showed amyloid deposits within the blood vessel walls and around muscle fibers. Mutation analysis identified two pathogenic heterozygous mutations in anoctamin 5 and no mutations in dysferlin. To our knowledge this is the first report of muscle amyloidosis in anoctamin 5 muscular dystrophy. This finding suggests that patients with amyloid in muscle should be screened for anoctamin 5 muscular dystrophy.

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