Abstract
Congenital muscular dystrophy (CMD) is a heterogenous disease with autosomic recessive transmission. In an epidemiological study in four provinces of Veneto (region of 2586830 inhabitants in north-east Italy), the recorded incidence rate for the period 1979–1993 was 4.65 x 10−5; the prevalence rate in the year 1993 was 6.8 × 10−6. The incidence and the prevalence rates that we have obtained during the course of our investigation represent the first estimates for CMD in Europe and show that this myopathy is among the most frequent neuromuscular diseases with autosomic recessive transmission.
Similar content being viewed by others
References
Dobyns WB, Pagon RA, Armstrong J, et al (1989) Diagnostic criteria for Walker-Warburg syndrome. Am J Med Genet 32:195–210
Dubowitz V (1994) Congenital muscular dystrophy. In: Emery AEH (ed) Diagnostic criteria for neuromuscular disorders. ENMC, Baarn, Netherlands, pp 32–34
Emery AEH (1991) Population frequencies of inherited neuromuscular diseases — a world survey. Neuromuscul Disord 1:19–29
Fardeau M (1982) Congenital myopathies. In: Mastaglia FL, Walton J (eds) Skeletal muscle pathology. Churchill Livingstone, Edinburgh, pp 161–203
Fenichel (1993) Clinical pediatric neurology. A signs and symptoms approach. Saunders, Philadelphia
Fukuyama Y, Osawa M, Suzuki H (1981) Congenital progressive muscular dystrophy of the Fukuyama type. Clinical, genetic and pathological considerations. Brain Dev 3:1–29
Gardner-Medwin D, Walton J (1994) The muscular dystrophies. In: Walton J, Karpati G, Hilton-James D (eds) Disorders of voluntary muscle. Churchill Livingstone, Edinburgh, pp 543–594
Hillaire D, Leclerc A, Faurè S, et al (1994) Localization of merosinnegative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping. Hum Mol Genet 3:1657–1661
Mostacciuolo ML, Danieli GA, Trevisan C, et al (1992) Epidemiology of spinal muscular atrophies in a sample of the Italian population. Neuroepidemiology 11:34–38
Nonaka I, Chou SM (1979) Congenital muscular dystrophy. In: Vinken PJ, Bruyn GW (eds) Handbook of clinical neurology, vol 41. North Holland Publishing, Amsterdam, pp 27–50
Santavuori P, Leisti J, Kruus J (1977) Muscle, eye and brain disease. A new syndrome. Neuropaediatrie 8:550–553
Toda T, Segawa M, Nomura Y, et al (1993) Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31–33. Nature Genet 5:283–286
Tomè FM, Evangelista T, Leclerc A, et al (1994) Congenital muscular dystrophy with merosin deficiency. CR Acad Sci III 317:351–357
Trevisan CP, Carollo C, Segalla P, et al (1991) Congenital muscular dystrophy: brain alterations in an unselected series of Western patients.J Neurol Neurosurg Psychiatry 54:330–334
Trevisan CP, Martinello F, Ferruzza E, Angelini C (1995a) Divergence of central nervous system involvement in two Western sisters with congenital muscular dystrophy: a clinical and neuroradiological follow-up. Eur Neurol 35:230–235
Trevisan CP, Martinello F, Ferruzza E, et al (1995b) Longitudinal evaluation of leukoencephalopathy in congenital muscular dystrophy: data on a heterogeneous series of Western cases. In: Fukuyama Y (ed) Congenital muscular dystrophy; Elsevier, Amsterdam (in press)
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Mostacciuolo, M.L., Miorin, M., Martinello, F. et al. Genetic epidemiology of congenital muscular dystrophy in a sample from north-east Italy. Hum Genet 97, 277–279 (1996). https://doi.org/10.1007/BF02185752
Received:
Revised:
Issue Date:
DOI: https://doi.org/10.1007/BF02185752