Spinal muscular atrophy with lower extremity predominance

Medical Condition
Synonyms	SMA-LED
Pronounce	N/A
Field	neurology
Symptoms
Complications
Onset
Duration
Types
Causes
Risks
Diagnosis
Differential diagnosis
Prevention
Treatment
Medication
Prognosis
Frequency
Deaths

Spinal muscular atrophy with lower extremity predominance is an extremely rare neuromuscular disorder of infants characterised by severe progressive muscle atrophy which is especially prominent in legs.<ref name="omim">Online Mendelian Inheritance in Man (OMIM) 158600 </ref>

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)<ref>,

 Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy, 
 Neurology, 
 2012,
 Vol. 78(Issue: 16),
 pp. 1714–20,
 DOI: 10.1212/WNL.0b013e3182556c05,
 PMID: 22459677,
 PMC: 3359582,</ref><ref>, 
 A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity predominance, 
 Neurogenetics, 
 2012,
 Vol. 13(Issue: 4),
 pp. 327–332,
 DOI: 10.1007/s10048-012-0337-6,
 PMID: 22847149,</ref> and is inherited in an autosomal dominant manner. As with many genetic disorders, there is no known cure to SMA-LED.

The condition was first described in a multi-generational family by Walter Timme in 1917.<ref>,

 Progressive Muscular Dystrophy As an Endocrine Disease, 
 Archives of Internal Medicine, 
 1917,
 
 pp. 79–104,
 DOI: 10.1001/archinte.1917.00080200084004,</ref> 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.<ref name="omim"/><ref>, 
 Dominant spinal muscular atrophy with lower extremity predominance: Linkage to 14q32, 
 Neurology, 
 2010,
 Vol. 75(Issue: 6),
 pp. 539–546,
 DOI: 10.1212/WNL.0b013e3181ec800c,
 PMID: 20697106,
 PMC: 2918478,</ref>

See also

• Spinal muscular atrophies

References

   This article is a genetic disorder stub. You can help WikiMD by expanding it!

   This article is a medical stub. You can help WikiMD by expanding it!