This report describes spinal muscular atrophy, lower extremity-predominant 1 (SMALED1), which is one of several diseases associated with the human cytoplasmic dynein heavy chain gene DYNC1H1 (see MIM:600112). Information about fly models for this and related diseases can be found in the report 'DYNC1H1-related neurodevelopmental and neuromuscular disorders' (FBhh0001596).
[updated Aug. 2024 by FlyBase; FBrf0222196]
Spinal muscular atrophy (SMA) is characterized by progressive muscle weakness resulting from degeneration and loss of the anterior horn cells (i.e., lower motor neurons) in the spinal cord and the brain stem nuclei. Onset ranges from before birth to adolescence or young adulthood. Poor weight gain, sleep difficulties, pneumonia, scoliosis, and joint contractures are common complications. [From GeneReviews, Spinal Muscular Atrophy, pubmed:20301526 2016.07.11]
[SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 1, AUTOSOMAL DOMINANT; SMALED1](https://omim.org/entry/158600)
[DYNEIN, CYTOPLASMIC 1, HEAVY CHAIN 1; DYNC1H1](https://omim.org/entry/600112)
Spinal muscular atrophy (SMA) is a hereditary neuromuscular disorder characterized by degeneration of spinal cord motor neurons resulting in muscle weakness. SMALED shows autosomal dominant inheritance with muscle weakness predominantly affecting the proximal lower extremities (Harms et al., 2010; pubmed:20697106). [from MIM:158600; 2024.08.27]
Autosomal dominant lower extremity-predominant spinal muscular atrophy-1 (SMALED1) is caused by heterozygous mutation in the DYNC1H1 gene. [from MIM:158600; 2024.08.27]
