Amyloidosis and exercise intolerance in ANO5 muscular dystrophy.

Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA.
Neuromuscular Disorders (Impact Factor: 3.13). 08/2011; 22(1):13-5. DOI: 10.1016/j.nmd.2011.07.005
Source: PubMed

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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