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Spinal muscular atrophy with lower extremity predominance 1

Rare neuromuscular disorder of infants characterised by severe progressive muscle atrophy

Field	Value
image	Autosomal dominant - en.svg
caption	Spinal muscular atrophy with lower extremity predominance is inherited in an autosomal dominant manner.
synonyms	Lower extremity predominant spinal muscular atrophy type 1, SMALED1
field	Neurology
symptoms	Progressive muscle atrophy in legs
onset	Infancy
causes	Mutation in DYNC1H1 gene
diagnosis	Molecular test

Spinal muscular atrophy with lower extremity predominance 1 (SMALED1) is an extremely rare neuromuscular disorder of infants characterised by severe progressive muscle atrophy which is especially prominent in legs.

The disorder is associated with a genetic mutation in the DYNC1H1 gene (the gene responsible also for one of the axonal types of Charcot–Marie–Tooth disease) and is inherited in an autosomal dominant manner. As with many genetic disorders, there is no known cure to SMALED1.

The condition was first described in a multi-generational family by Walter Timme in 1917. Its linkage to the DYNC1H1 gene was discovered in 2010 by M. B. Harms, et al., who also proposed the current name of the disorder.

References

{{OMIM. 158600
(2012). "Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy". Neurology.
(2012). "A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity predominance". Neurogenetics.
(1917). "Progressive Muscular Dystrophy As an Endocrine Disease". Archives of Internal Medicine.
(2010). "Dominant spinal muscular atrophy with lower extremity predominance: Linkage to 14q32". Neurology.

Info: Wikipedia Source

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autosomal-dominant-disorders spinal-muscular-atrophy neuromuscular-disorders rare-diseases systemic-atrophies-primarily-affecting-the-central-nervous-system

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