Amyloidosis and exercise intolerance in ANO5 muscular dystrophy
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.
- SourceAvailable from: Claudia Stöllberger
International Journal of Cardiology 11/2014; 180C:100-102. DOI:10.1016/j.ijcard.2014.11.148 · 6.18 Impact Factor
- "Duchenne muscular dystrophy  LGMD1B (lamin A/C)  LGMD2I  Gamma-sarcoglycanopathy  Caveolinopathy  Mitochondrial myopathy   Pontocerebellar hypoplasia  CPT-deficiency  Fatty acid oxidation disorders  Trifunctional protein disorder  Multiple acyl-CoA dehydrogenase deficiency  VLCAD-deficiency  McArdle disease  Phosphofruktokinase deficiency  Phosphoglycerate-kinase deficiency  MADA-deficiency  Glutaric aciduria  Myopathy (SCN4A mutation)  LPIN myopathy (CK↑, myalgia)  ANO5 muscular dystrophy  RYR1 myopathy  Aldolase mutations  MHS  Primary aldosteronism  Iron–sulfur cluster deficiency myopathy  Paraganglioma  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. "
- Journal of Neurology 04/2012; 259(9):1988-90. DOI:10.1007/s00415-012-6502-x · 3.84 Impact Factor
- [Show abstract] [Hide abstract]
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.Developmental Medicine & Child Neurology 05/2012; 54(10):886-91. DOI:10.1111/j.1469-8749.2012.04320.x · 3.29 Impact Factor