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Updated: Jun 30, 2026
06:52
Behavioral and Locomotor Measurements Using an Open Field Activity Monitoring System for Skeletal Muscle Diseases
Published on: September 29, 2014
[Distal spinal-muscular atrophy 1 (DSMA1 or SMARD1)].
A M Kaindl1, U-P Guenther, S Rudnik-Schöneborn
1Charité, service de neuropédiatrie, hôpital universitaire, campus Virchow-Klinikum, Augustenburger Platz 1, 13353 Berlin, Allemagne. kaindl@rdebre.inserm.fr
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie
|September 23, 2008
Summary
This review covers distal spinal-muscular atrophy 1 (DSMA1), detailing its clinical, neuropathological, and genetic features. It consolidates information on DSMA1, previously known as SMARD1 and dHMN6.
Area of Science:
- Neurology
- Genetics
- Pathology
Context:
- Distal spinal-muscular atrophy 1 (DSMA1) is a rare genetic neuromuscular disorder.
- Formerly known as SMARD1 and dHMN6, DSMA1 presents unique clinical challenges.
Purpose:
- To provide a comprehensive review of DSMA1.
- To consolidate current knowledge on clinical, neuropathological, and genetic aspects of DSMA1.
Summary:
- DSMA1 is characterized by progressive muscle weakness and atrophy, primarily affecting distal muscles.
- Neuropathological findings typically involve motor neuron degeneration.
- Genetic basis involves specific gene mutations leading to the disorder.
Impact:
- Enhances understanding of DSMA1 for clinicians and researchers.
- Aids in diagnosis and potential therapeutic target identification.
- Serves as a foundational resource for future DSMA1 studies.
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