View source for Medicine:Spinal muscular atrophy with lower extremity predominance

{{short description|Rare neuromuscular disorder of infants characterised by severe progressive muscle atrophy}}
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| image           = Autosomal dominant - en.svg
| caption         = Spinal muscular atrophy with lower extremity predominance is inherited in an autosomal dominant manner.
|synonyms= SMA-LED
| field           = neurology
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'''Spinal muscular atrophy with lower extremity predominance''' is an extremely rare neuromuscular disorder of infants characterised by severe progressive muscle [[Medicine:Atrophy|atrophy]] which is especially prominent in legs.<ref name="omim">{{OMIM|158600}}</ref>

The disorder is associated with a genetic [[Biology:Mutation|mutation]] in the ''DYNC1H1'' [[Biology:Gene|gene]] (the gene responsible also for one of the axonal types of [[Medicine:Charcot–Marie–Tooth disease|Charcot–Marie–Tooth disease]])<ref>{{cite journal |vauthors=Harms MB, Ori-McKenney KM, Scoto M, Tuck EP, Bell S, Ma D, Masi S, Allred P, Al-Lozi M, Reilly MM, Miller LJ, Jani-Acsadi A, Pestronk A, Shy ME, Muntoni F, Vallee RB, Baloh RH | year = 2012 | title = Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy | journal = Neurology | volume = 78 | issue = 16 | pages =  1714–20| doi = 10.1212/WNL.0b013e3182556c05 | pmid = 22459677 | url =  | format =  | accessdate = | pmc =3359582}}</ref><ref>{{Cite journal | last1 = Tsurusaki | first1 = Y. | last2 = Saitoh | first2 = S. | last3 = Tomizawa | first3 = K. | last4 = Sudo | first4 = A. | last5 = Asahina | first5 = N. | last6 = Shiraishi | first6 = H. | last7 = Ito | first7 = J. I. | last8 = Tanaka | first8 = H. | last9 = Doi | first9 = H. | last10 = Saitsu | first10 = H. | last11 = Miyake | first11 = N. | last12 = Matsumoto | first12 = N. | title = A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity predominance | doi = 10.1007/s10048-012-0337-6 | journal = Neurogenetics | volume = 13 | issue = 4 | pages = 327–332 | year = 2012 | pmid = 22847149| pmc = }}</ref> and is [[Social:Inheritance|inherited]] in an autosomal dominant manner. As with many [[Medicine:Genetic disorder|genetic disorder]]s, there is no known cure to SMA-LED.

The condition was first described in a multi-generational family by Walter Timme in 1917.<ref>{{Cite journal | last1 = Timme | first1 = W. | title = Progressive Muscular Dystrophy As an Endocrine Disease | doi = 10.1001/archinte.1917.00080200084004 | journal = Archives of Internal Medicine | pages = 79–104 | year = 1917 | pmid =  | pmc = | hdl = 10192/31015 | hdl-access = free }}</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>{{Cite journal | last1 = Harms | first1 = M. B. | last2 = Allred | first2 = P. | last3 = Gardner | first3 = R. | last4 = Fernandes Filho | first4 = J. A. | last5 = Florence | first5 = J. | last6 = Pestronk | first6 = A. | last7 = Al-Lozi | first7 = M. | last8 = Baloh | first8 = R. H. | doi = 10.1212/WNL.0b013e3181ec800c | title = Dominant spinal muscular atrophy with lower extremity predominance: Linkage to 14q32 | journal = Neurology | volume = 75 | issue = 6 | pages = 539–546 | year = 2010 | pmid =  20697106| pmc =2918478 }}</ref>

== See also ==

* [[Medicine:Spinal muscular atrophies|Spinal muscular atrophies]]

== References ==
{{reflist|colwidth=30em}}{{Medical resources
|  OMIM = 158600
}}

{{CNS diseases of the nervous system}}

[[Category:Neurogenetic disorders]]


{{Sourceattribution|Spinal muscular atrophy with lower extremity predominance|1}}