Neurological disorders of unknown ediology

E J Novotny edward.novotny at yale.edu
Sun Oct 27 22:37:17 EST 1996


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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   Research Director, ENMC
   The Medical School
   University of Edinburgh
   Edinburgh EH8 9AG, Scotland, UK

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