Infantile spinal muscular atrophy variant with congenital fractures in a female neonate: evidence for autosomal recessive inheritance.
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Adult↗
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Results for “Muscular Atrophy, Spinal”
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[An autopsied case of progressive spinal muscular atrophy showing tremor and choreiform movement].
A 42-year-old man without family history of neurologic disease developed muscle weakness, and wasting associated with tremor and choreiform movement. He died at age 75 with 33 years of total duration of illness. Autopsy revealed neuronal loss and gliosis in the anterior horns of the spinal cord, hypoglossal nuclei, caudate nuclei, putamen, globus pallidus, and substantia nigra. Bunina bodies or Lewy bodies were not seen. Several similar cases with motor neuron disease, dementia and parkinsonism have been reported in the literature. However, this pattern of chronic spinal neostriato-pallido-nigral degeneration has not been reported.
Aged↗
Creatine phospholinase activity in spinal muscular atrophy.
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Adolescent↗
Chronic proximal spinal muscular atrophy.
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Adolescent↗
Benign infantile spinal muscular atrophy. A prospective study.
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Adolescent↗
An unusual inheritane pattern for spinal muscular atrophy.
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Alleles↗
Acute Werdnig-Hoffmann disease: acute infantile spinal muscular atrophy.
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Acute Disease↗
Diaphragmatic paralysis due to spinal muscular atrophy.
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Female↗
A new genetic variant of spinal muscular atrophy.
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Child, Preschool↗
Chronic spinal muscular atrophy and pallidonigral degeneration: report of a case.
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Amyotrophic Lateral Sclerosis↗
[Huntington's chorea and chronic-progressive spinal muscular atrophy].
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Adult↗
The infantile proximal spinal muscular atrophies in Switzerland.
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Adolescent↗
[Chronic spinal muscular atrophy involving the hands].
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Adolescent↗
[Detection of hereditary factors in spinal muscular atrophy].
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Adolescent↗
Genetic testing for spinal muscular atrophy (SMA) in South Africa.
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Black People↗
[Spinal muscular atrophy (type I, II)].
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Chromosomes, Human, Pair 5↗
Prenatal diagnosis of spinal muscular atrophy with respiratory distress (SMARD1) in a twin pregnancy.
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Chorionic Villi Sampling↗