Historical paperRamblings in the history of spinal muscular atrophy
Section snippets
Introductory background
The term Spinal Muscular Atrophy is usually applied to an autosomal recessive disorder, characterised by symmetrical muscle weakness, affecting the lower limbs more than the upper, proximal muscle more than distal and also selectively affecting the axial and intercostal muscles in the more severe forms, but sparing the diaphragm.
Two classical syndromes have been recognised (Fig. 1). A severe infantile form, with onset at birth or in the first few months of life and usually fatal in the first
Classical papers
With this introductory background, one can now review the classical papers.
In 1891 Guido Werdnig (1844–1919) of the department of Pathological Anatomy in the University of Graz in Austria described two brothers with onset of weakness around 10 months [5]. One had complicating pertussis and hydrocephalus and died at three years. The other survived till six years. At autopsy he found degeneration of the anterior horn cells of the cord. Werdnig wrote a further review in 1894 [6], but subsequently
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Zwei frühinfantile hereditäre Fälle von progressiver Muskelatrophie unter dem Bilde der Dystrophie, aber auf neurotischer Grundlage
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Die frühinfantile progressive spinale Amyotrophie
Archic fur Psychiatrie and Nervenkrankheiten, Berlin
Über chronische spinale Muskelatrophie im Kindesalter auf familiärer Basis
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2023, European Journal of Cell BiologyDisease classification: A framework for analysis of contemporary developments in precision medicine
2023, SSM - Qualitative Research in HealthCentral synaptopathy is the most conserved feature of motor circuit pathology across spinal muscular atrophy mouse models
2021, iScienceCitation Excerpt :Spinal muscular atrophy (SMA) is the second most common autosomal recessive disorder and most frequent genetic cause of infant mortality. The clinical phenotype of patients with SMA is determined by the disruption of motor circuits causing a proximo-distal progressing muscle atrophy, paralysis, and eventually death in severe cases (Dubowitz, 2009; Tisdale and Pellizzoni, 2015; Wirth, 2021). These impairments of the motor system are caused by homozygous deletion or mutation of the survival motor neuron 1 (SMN1) gene with the retention of the hypomorphic SMN2 gene leading to the ubiquitous deficiency of SMN protein.