The nosology of the spinal muscular atrophies.

@article{Emery1971TheNO,
  title={The nosology of the spinal muscular atrophies.},
  author={Alan E. H. Emery},
  journal={Journal of Medical Genetics},
  year={1971},
  volume={8},
  pages={481 - 495}
}
  • A. Emery
  • Published 1971
  • Medicine
  • Journal of Medical Genetics
In the last few years there has been an increase in interest among neurologists and geneticists in the spinal muscular atrophies. With the advent of several relatively sophisticated diagnostic procedures many patients once thought to be suffering from muscular dystrophy have in fact been found to have spinal muscular atrophy. The spinal muscular atrophies may be defined as a group of inherited diseases in which there is degeneration of the anterior horn cells (lower motor neurones) of the… Expand
Spinal Muscular Atrophies
TLDR
With respect to most of the nonproximal SMAs and autosomal dominant forms of SMAs, the genetic basis remains to be identified at the time of writing (February 2011). Expand
Spinal muscular atrophies (SMAs)
TLDR
The patients with neurogenic muscular atrophy, who also have widespread brisk reflexes and extensor plantar responses, are classified as having the progressive muscularatrophy variety of motor neuron disease. Expand
Spinal muscular atrophies.
TLDR
Identifying molecules involved in the SMA degenerative process should represent additional attractive targets for therapeutics in SMA. Expand
Other forms of spinal muscular atrophies
TLDR
The electrophysiological investigations described in these disorders have been performed to confirm the presence of peripheral motor neuron involvement and the clinical picture is delineated and the genetic defect is identified. Expand
Chronic childhood spinal muscular atrophies in Algeria A genetic study
TLDR
This paper describes a genetic study of the chronic spinal muscular atrophies of late infancy and early childhood in Algeria, where a trend toward later male onset has been noted, and the degree of disability is more marked in males at or after the age of 10. Expand
Spinal muscular atrophy: untangling the knot?
TLDR
Three candidate genes, the survival motor neurone (SMN), the neuronal inhibitory protein (NAIP) gene, and the p44 (subunit of basal transcription factor TFIIH) gene have been considered as genes involved in this condition. Expand
A genetic study of subacute and chronic spinal muscular atrophy in childhood A nosological analysis of 124 index patients
TLDR
A genetic study of the subacute spinal muscular atrophies of late infancy and early childhood has been undertaken, finding a small group of cases is caused by a new dominant mutation(s), or is composed of phenocopies, or both. Expand
Clinical-anatomic study of a family with bulbo-spinal muscular atrophy in adults
Four cases are presented, with bulbo-spinal muscular atrophy characterised by adult onset and rapid evolution. They belong to a family in which the type of inheritance is probably dominant. Two casesExpand
Chronic childhood Algeria A genetic study spinal muscular atrophies in
SUMMARY This paper describes a genetic study of the chronic spinal muscular atrophies of late infancy and early childhood in Algeria. There were 50 index patients occurring in 44 kindreds andExpand
Chronic generalized spinal muscular atrophy of infancy and childhood
TLDR
Patients with this characteristic clinical syndrome comprise approximately one-fifth of children with chronic spinal muscular atrophy, and management should be based on vigorous antibiotic therapy, orthopaedic and neurological surveillance, and a carefully planned educational programme aimed at realistic employment in late adolescence. Expand
...
1
2
3
4
5
...

References

SHOWING 1-10 OF 182 REFERENCES
Familial progressive bulbar‐spinal muscular atrophy
TLDR
This paper presents a family with clinically and pathologically documented progressive muscular atrophy beginning in adult life, chronic in duration, with both spinal and bulbar manifestations, and considers prognosis by reviewing 190 cases of progressive motor neuron idisease in adults in Sweden. Expand
Kugelberg-Welander Syndrome (Hereditary Proximal Spinal Muscular Atrophy)
TLDR
Six cases in two unrelated families in a non-specialized paediatric practice covering a total population of roughly 250,000 are presented, presenting six cases of a lower-motor-neurone disorder with weakness, wasting, and loss of the appropriate reflexes, particularly the quadriceps. Expand
Neurogenic atrophy simulating facioscapulohumeral dystrophy. A dominant form.
TLDR
A mother and daughter with a mother anddaughter with a neurogenic muscular atrophy affecting primarily the face, neck, and shoulders are presented. Expand
Neurogenic muscular atrophy simulating muscular dystrophy.
TLDR
The syndrome described by these authors included onset of muscle weakness in childhood or adolescence, atrophy, hyporeflexia, and weakness predominantly affecting the proximal muscles; hereditary transmission apparently as a non-sex-linked recessive; confirmation of the neurogenic nature of the disorder by muscle biopsy and/or electromyography. 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
Benign spinal muscular atrophy arising in childhood and adolescence.
TLDR
Evidence does not justify the suggestion that there is a primary myopathic element in Werdnig-Hoffmann disease, and certain cases even show affinities with adult progressive muscular atrophy. 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
A new genetic variant of spinal muscular atrophy
TLDR
Analysis of familial cases revealed little variation of clinical manifestations and course among affected members of the same family, and pedigree analysis of spinal muscular atrophy families revealed various patterns of inheritance. Expand
Progressive bulbar paralysis in childhood (Fazio-Londe's disease). Report of a case with pathologic evidence of nuclear atrophy.
TLDR
The following presentation is the first clinical and pathological study of progressive nuclear amyotrophy chiefly affecting the brain stem in a child (progressive bulbar paralysis of childhood, Fazio-Londe's disease). Expand
Chronic spinal muscular atrophy in adults. 2. Other forms.
TLDR
Nineteen patients with long-standing muscular wasting are described in whom the clinical and investigative data suggest a chronic disorder of anterior horn cells, and it is suggested that this grouping may bear some relationship to an aetiological classification, although exceptions probably occur. Expand
...
1
2
3
4
5
...