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Heredofamilial Juvenile muscular Atrophy Simulating muscular Dystrophy
Abstract
Since 1945 we have personally examined 12 patients with a juvenile type of hereditary muscular atrophy, all of whom had earlier been considered to have muscular dystrophy of the limb-girdle type. The diagnosis was verified by electromyography (Kugelberg,121949) and muscle biopsy. This type of hereditary juvenile spinal muscular atrophy constitutes a distinct disease entity but seems to be little known, since it is generally mistaken for muscular dystrophy. Ford8(1952) and others have reported cases of juvenile spinal muscular atrophy. The disease described here differs from theirs in the slower and relatively favorable course and the absence of bulbar and pseudobulbar symptoms and mental changes. CASE HISTORIES Case 2, which is fairly typical and which led to this investigation, will be described in detail and the remaining cases abstracted. For further data on weakness see the Table. Case 1 (Pedigree 1).— The patient, an unmarried man aged
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Citations
Cited by
CLASSIFICATION OF SPINAL MUSCULAR ATROPHIES
Pearn, J. (1980) · The Lancet · doi:10.1016/s0140-6736(80)90847-8 · Cited by 422
Modeling motor neuron disease: the matter of time
Arbab, M., Baars, S., & Geijsen, N. (2014) · Trends in Neurosciences · doi:10.1016/j.tins.2014.07.008 · Cited by 33
Metadata
- Authors
- KUGELBERG, E.
- Venue
- Archives of Neurology And Psychiatry
- Publisher
- American Medical Association (AMA)
- Published
- 1956-05-01
- Volume
- 75
- Issue
- 5
- Pages
- 500
- ISSN
- 0096-6754 (ISSN-L)
- OpenAlex
- W1963985395
- Cited by
- 286
- References
- 0
- FWCI
- 0.63
- Type
- journal article
- Language
- en
- Open access
- closed
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- KUGELBERG, E. (1956). Heredofamilial Juvenile muscular Atrophy Simulating muscular Dystrophy. Archives of Neurology And Psychiatry. https://doi.org/10.1001/archneurpsyc.1956.02330230050005
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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