Proximal spinal muscular atrophy.

@article{Gross1966ProximalSM,
  title={Proximal spinal muscular atrophy.},
  author={M. Gross},
  journal={Journal of Neurology, Neurosurgery \& Psychiatry},
  year={1966},
  volume={29},
  pages={29 - 34}
}
  • M. Gross
  • Published 1966
  • Medicine
  • Journal of Neurology, Neurosurgery & Psychiatry
It has been known for some time that cases of muscular atrophy can occur in young people which clinically resemble limb girdle muscular dystrophy but which electromyographically and histologically can be shown to be due to damage to the spinal motor neurone. Investigation of the family frequently reveals further cases, and the course and prognosis is often benign and relatively non-progressive and similar in many ways to the course of limb-girdle muscular dystrophy. Similar cases occurring in a… Expand
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References

SHOWING 1-10 OF 12 REFERENCES
Heredofamilial juvenile muscular atrophy simulating muscular dystrophy.
TLDR
Since 1945 the authors 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, which constitutes a distinct disease entity but seems to be little known. Expand
COURSE AND SYMPTOMS OF PROGRESSIVE INFANTILE MUSCULAR ATROPHY: A Follow-Up Study of One Hundred and Twelve Cases in Denmark
TLDR
About 200 cases of infantile muscular atrophy, a hereditary familial degeneration of the motor cells in the anterior horns of the spinal cord causing progressive atrophy and paralysis of the skeletal muscles, have been reported. Expand
Infantile muscular atrophy.
TLDR
The purpose of the present article is to call attention to the wide spectrum of its onset and severity and to correlate these features with the pathological changes. Expand
HEREDITARY PROXIMAL NEUROGENIC MUSCULAR ATROPHY IN ADULT.
TLDR
Five patients with muscular atrophy resembling this syndrome are seen, except for the following two points: onset of the disorder in adults; and presence of the syndrome of bulbar palsy in three of the five cases. Expand
Epidemiologic Investigations of Amyotrophic Lateral Sclerosis
Our observations of the clinical and pathologic characteristics of the neurologic disorder we observed in the Mariana Islands lead us to agree with Arnold and associates’ and with Koerner‘ that thisExpand
Epidemiologic Investigations of Amyotrophic Lateral Sclerosis
TLDR
In this paper the familial incidence of amyotrophic lateral sclerosis will be reviewed in detail, with a description of those cases found in the literature and of several additional pedigrees and other data which have been obtained. Expand
Serum creatine phosphokinase. Activity in progressive muscular dystrophy and neuromuscular diseases.
TLDR
The present communication is concerned with the determination of creatine phosphokinase and aldolase activities in the sera of patients with progressive muscular dystrophy and neuromuscular diseases. Expand
Serum creatine phosphokinase activity in progressive muscular dystrophy
  • 1961
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