Amyloidosis and exercise intolerance in ANO5 muscular dystrophy

Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA.
Neuromuscular Disorders (Impact Factor: 2.64). 08/2011; 22(1):13-5. DOI: 10.1016/j.nmd.2011.07.005
Source: PubMed


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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    • "Duchenne muscular dystrophy [9] LGMD1B (lamin A/C) [10] LGMD2I [11] Gamma-sarcoglycanopathy [12] Caveolinopathy [13] Mitochondrial myopathy [14] [15] Pontocerebellar hypoplasia [16] CPT-deficiency [17] Fatty acid oxidation disorders [1] Trifunctional protein disorder [18] Multiple acyl-CoA dehydrogenase deficiency [19] VLCAD-deficiency [20] McArdle disease [21] Phosphofruktokinase deficiency [22] Phosphoglycerate-kinase deficiency [23] MADA-deficiency [24] Glutaric aciduria [25] Myopathy (SCN4A mutation) [26] LPIN myopathy (CK↑, myalgia) [27] ANO5 muscular dystrophy [28] RYR1 myopathy [29] Aldolase mutations [30] MHS [31] Primary aldosteronism [32] Iron–sulfur cluster deficiency myopathy [33] Paraganglioma [34] CPT: carnitine palmitoyltransferase deficiency, HNPP: hereditary neuropathy with liability to pressure palsies, VLCAAD: very long chain acyl-CoA dehydrogenase deficiency, uk: unknown. mild CK-elevations one should have recognized that the patient had a muscle problem and that hyper-CK-emia could not be simply attributed to sport activity. "

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    ABSTRACT: We review the muscular dystrophies and metabolic myopathies associated with myalgia and rhabdomyolysis together with some less well-recognized associations based upon the personal practice of the authors. A careful history and clinical examination will direct investigation towards an accurate molecular diagnosis. Non-specific exercise-induced myalgia in the presence of muscle hypertrophy and a high creatine kinase will point towards a muscular dystrophy. Symptoms occurring within minutes of exercise and with isometric contraction, especially with a history of a 'second wind' phenomenon, suggest a disorder of glycogen metabolism. In those patients in whom symptoms occur after prolonged exercise, infections, fasting, stress, and cold, a disorder of fatty acid oxidation should be considered. Heat-induced rhabdomyolysis caused by exercising in hot and humid climates should lead the clinician to suspect a mutation in RYR1. Serum creatine kinase level should be a checked in all children presenting with leg pains. A careful history and examination and laboratory confirmation of myoglobinuria will target investigations leading to a correct molecular diagnosis.
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