Gene: [05q13/SMN1] survival of motor neuron 1, telomeric; spinal muscular atrophy, type I (infantile acute form; Werdnig-Hoffmann disease; MIM:253300); spinal muscular atrophy, type II (intermediate form; MIM:253550); spinal muscular atrophy, type III (juvenile, mild form; Wohlfart-Kugelberg-Welander disease; MIM:253400); [SMA1 SMA2 ]

PAT

In all SMA pathology forms, the spinal anterior corn cells are damaged. Pathogenesis is unknown. Three forms of spinal muscular atrophy are distinguished by onset age and progression rate. The Werdnig-Hoffmann form (I) is the most severe; it begins at the first 6 months of age and leads to death at the age of 2 years. The intermediate (II) form has more mild progression, with onset age between 3 and 15 months; prognosis depends on neuron damage rate. The Kugelberg-Welander form (III) is juvenile; patients can move without assistance."

HET

X-linked spinal and bulbar muscular atrophy (Kennedy disease) is caused by mutations in the gene for the androgen receptor (see GEM:0Xq12/AR)."

FOG

The inheritance mode: autosomal recessive. In forms II and III segregation rate is more than the expectable one, that can be caused by incorrect diagnosis."

REL

GEM:05q13/SMN2.

REF

LOC,LIN "Brzustowicz LM &: Nature, 344, N6266, 540-541, 1990
CLO,SEQ,GEN "Burglen L &: Genomics, 32, 479-482, 1996
MUT "Burglen L &: Lancet, 346, 316-317, 1995
MUT "Bussaglia E &: Nature Genet, 11, 335-337, 1995
MUT "Cobben JM &: AJHG, 57, 805-808, 1995
LIN,PAT,FOG "Gilliam &: Nature, 345, 82, 1990
MUT "Hahnen E &: Hum Mol Genet, 6, 821-825, 1997
MUT "Hahnen E &: AJHG, 59, 1057-1065, 1996
CLO,SEQ,LOC "Lefebvre S &: Cell, 80, 155-165, 1995
MUT "Matthijs G &: J Med Genet, 33, 469-474, 1996
LOC,LIN "Melki J &: Lancet, 336, 271-273, 1990a
LOC,LIN "Melki J &: Nature, 344, 767-768, 1990b
MUT "Parsons DW &: Hum Mol Genet, 5, 1727-1732, 1996
MUT "Rodrigues NR &: Hum Mol Genet, 4, 631-634, 1995
FUN "Scharf JM &: Genomics, 38, 405-417, 1996
LIN,PAT,FOG "Sheth P &: AJHG, 48, 764-768, 1991
MUT "Talbot K &: Hum Mol Genet, 6, 497-500, 1997
MUT "van der Steege G &: AJHG, 59, 834-838, 1996
MUT "Wang CH &: Hum Mol Genet, 5, 359-365, 1996
MUT "Wirth B &: Hum Mol Genet, 4, 1273-1284, 1995

SWI

SWISSPROT: Q16637

KEY

myo, neu

CLA

coding, basic

LOC

05 q13

MIM

MIM: 600354

SYN

SMA1 SMA2

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