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Neurology 2000;54:1075-1079
© 2000 American Academy of Neurology
Articles

Homogeneous phenotype of the gypsy limb-girdle MD with the {gamma}-sarcoglycan C283Y mutation

L. Merlini, MD, J-C. Kaplan, MD, C. Navarro, MD, A. Barois, MD, D. Bonneau, MD, J. Brasa, MD, B. Echenne, MD, P. Gallano, PhD, L. Jarre, MD, M. Jeanpierre, MD, L. Kalaydjieva, PhD, F. Leturcq, MD, A. Levi-Gomes, MD, A. Toutain, MD, I. Tournev, PhD, A. Urtizberea, MD, J.-M. Vallat, MD, T. Voit, MD and J.-M. Warter, MD

From the Muscle Clinic (Dr. Merlini), Istituto Ortopedico Rizzoli, Bologna, Italy; the Service de Pediatrie (Dr. Barois), Hôpital R. Poincare, Garches, France; the Service de Genetique Medicale (Dr. Bonneau), CHU, Poitiers, France; the Department of Neuroradiology (Dr. Brasa), Hospital Xeral Cies, Vigo, Spain; the Service de Neuropediatrie (Dr. Echenne), Hôpital St Eloi, Montpellier, France; the Department of Genetics (Dr. Gallano), Hospital Sant Pau, Barcelona, Spain; the Department of Pediatric Neurology (Dr. Jarre), Regina Margherita Hospital, Torino, Italy; the Laboratoire de Biochemie e Genetique (Drs. Jeanpierre, Kaplan, and Leturcq), Hôpital Cochin, Paris, France; the Department Human Biology (Dr. Kalaydjieva), E. Cowan University, Joondalup, Australia; the Department of Pediatric Neurology (Dr. Levi-Gomes), Hospital Santa Maria, Lisbon, Portugal; the Servicio de Anatomia Patologica (Dr. Navarro), Hospital do Meixoeiro, Vigo, Spain; the Service de Genetique (Dr. Toutain), Hôpital Bretonneau, Tours, France; the Department of Neurology (Dr. Tournev), University of Sofia, Bulgaria; the Institut of Myology (Dr. Urtizberea), Hôpital Salpetriere, Paris, France; the Department of Neurology (Dr. Vallat), Hôpital Dupuytren, Limoges, France; the Department of Pediatrics (Dr. Voit), University of Essen, Germany; and the Department of Neurology (Dr. Warter), Hôpital Civil, Strasbourg, France.

Address correspondence and reprint requests to Dr. Luciano Merlini, Muscle Clinic, Istituto Ortopedico Rizzoli, Via Pupilli 1, 40136 Bologna, Italy.

OBJECTIVE: To characterize the clinical phenotype of LGMD2C in gypsies.

BACKGROUND: Limb-girdle muscular dystrophy (LGMD) in gypsies of Western Europe is caused by a homozygous C283Y mutation on the same haplotype, suggesting a founder effect.

METHODS: We performed clinical, laboratory, and muscle imaging studies of 40 patients.

RESULTS: Mean age at onset was 5.3 years. One half of the patients had loss of ambulation by the age of 12; 13% still could walk after age 16. Calf hypertrophy, scapular winging, macroglossia, and lumbar hyperlordosis were common. Girdle, trunk, and proximal limb flexor muscles had earlier and more severe involvement. Cardiomyopathy was not observed. Five patients in the third decade of life required mechanical ventilation. Scoliosis was common in the nonambulatory stage.

CONCLUSIONS: LGMD2C in gypsy patients with C283Y mutation presents a rather homogeneous phenotype, characterized by an initial Duchenne-like progressive course followed by a more prolonged survival rate possibly due to the absence of early respiratory impairment and cardiac failure.

Key words: Limb-girdle muscular dystrophy—{gamma}-Sarcoglycanopathy—Gypsy.




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