David Ray wrote:
>> Is anyone out there aware of anyone with a neurological condition which
> has been diagnosed as an infintile form of spinal musclular atrophy which
> has been the case of somone who is in a wheel chair, was 17 years old, now is 38
> years old and has two completely normal children? She is completely normal in all
> respects except for the fact that she is not strong enought to walk/?
>> David
The disorder sounds like Spinal muscular atrophy. Here are a few
references!
SPINAL MUSCULAR ATROPHY
Prevalence in the population and incidence at birth
Type I severe Werdnig-Hoffmann disease
Type II intermediate
Type III benign Kugelberg-Welander disease
Burd L, Short SK, Martsolf JT, Nelson RA. Prevalence of type I spinal
muscular atrophy in North Dakota. Am J Med Genet 1991;41:212-5.
Czeizel A, Hamula J. A Hungarian study on Werdnig-Hoffmann disease.
J Med Genet 1989;26:761-3.
Fried K, Mundel G. High incidence of spinal muscular atrophy type I
(Werdnig-Hoffmann disease) in the Karaite community in Israel. Clin
Genet
1977;12:250-1.
Ignatius J, Donner M. Epidemiology of childhood spinal muscular atrophy
(in Finnish). In: Lang H, ed. Lihastautien kehittyva tutkimus ja hoito.
Turku: Kiasma, 1989.
Pascalet-Guidon M-J, Bois E, Feingold J, Mattei J-F, Combes J-C, Hamon
C.
Cluster of acute infantile spinal muscular atrophy (Werdnig-Hoffmann
disease) in a limited area of Reunion Island. Clin Genet 1984;26:39-42.
Pearn JH. The gene frequency of acute Werdnig-Hoffmann disease (SMA
Type
I). A total population survey in North-East England. J Med Genet
1973;10:260-5.
Pearn J. Incidence, prevalence, and gene frequency studies of chronic
childhood spinal muscular atrophy. J Med Genet 1978;15:409-13.
Spiegler AWJ, Hausmanowa-Petrusewicz I, Borkowska J, Klopocka A.
Population data on acute infantile and chronic childhood spinal muscular
atrophy in Warsaw. Ilum Genet 1990;85:211-4.
Tangsrud S-E, Halvorsen S. Child neuromuscular disease in Southern
Norway.
Prevalence, age and distribution of diagnosis with special reference to
"non-Duchenne muscular dystrophy". Clin Genet 1988;34:145-52.
Winsor EJ, Murphy EG, Thompson MW, Reed TE. Genetics of childhood
spinal
muscular atrophy. J Med Genet 1971;8:143-8.
Zellweger H, Hanhart E. The infantile proximal spinal muscular
atrophies
in Switzerland. Helv Paediat Acta 1972;27:355-60.
These data have been prepared for the European Neuromuscular Center and
further details may be obtained from:
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Professor A.E.H. Emery
Research Director, ENMC
The Medical School
University of Edinburgh
Edinburgh EH8 9AG, Scotland, UK
(Tel: +31 332 3963; Fax: +31 332 4288)
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