loading...| Preferred Name |
Stiff-Person Syndrome |
| Synonyms |
Stiff-Trunk Syndrome |
| Definitions |
A condition characterized by persistent spasms (SPASM) involving multiple muscles, primarily in the lower limbs and trunk. The illness tends to occur in the fourth to sixth decade of life, presenting with intermittent spasms that become continuous. Minor sensory stimuli, such as noise and light touch, precipitate severe spasms. Spasms do not occur during sleep and only rarely involve cranial muscles. Respiration may become impaired in advanced cases. (Adams et al., Principles of Neurology, 6th ed, p1492; Neurology 1998 Jul;51(1):85-93) |
| ID |
http://purl.bioontology.org/ontology/MESH/D016750 |
| altLabel |
Stiff-Trunk Syndrome Syndrome, Stiff-Trunk Stiff-Baby Syndrome Hyperekplexias, Familial Syndromes, Congenital Stiff-Person Moersch-Woltmann Syndrome Stiff-Man Syndrome, Congenital Syndrome, Stiffman Congenital Stiff-Man Syndromes Syndromes, Startle Congenital Stiff-Man Syndrome Syndrome, Congenital Stiff-Person Syndromes, Congenital Stiff-Man Stiff-Man Syndromes, Congenital Syndromes, Stiff-Baby Hyperekplexia, Hereditary Stiffman Syndrome Syndrome, Stiff-Man Hyperekplexias, Hereditary Stiff-Person Syndromes, Congenital Syndrome, Stiff-Person Stiff Man Syndrome Syndrome, Stiff-Baby Stiff-Baby Syndromes Stiff-Person Syndrome, Congenital Startle Syndrome Moersch Woltmann Syndrome Familial Hyperekplexia Stiff-Trunk Syndromes Congenital Stiff-Person Syndrome Stiff-Man Syndrome Stiff Person Syndrome Syndrome, Startle Syndrome, Moersch-Woltmann Syndromes, Stiff-Trunk Congenital Stiff-Person Syndromes Syndrome, Congenital Stiff-Man Startle Syndromes Hyperekplexia, Familial Hereditary Hyperekplexias Stiff Trunk Syndrome Congenital Stiff Man Syndrome Hereditary Hyperekplexia Familial Hyperekplexias |
| AQL |
BL CF CI CL CN CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI |
| cui |
C4084968 C4255079 C0085292 |
| DC |
1 |
| definition |
A condition characterized by persistent spasms (SPASM) involving multiple muscles, primarily in the lower limbs and trunk. The illness tends to occur in the fourth to sixth decade of life, presenting with intermittent spasms that become continuous. Minor sensory stimuli, such as noise and light touch, precipitate severe spasms. Spasms do not occur during sleep and only rarely involve cranial muscles. Respiration may become impaired in advanced cases. (Adams et al., Principles of Neurology, 6th ed, p1492; Neurology 1998 Jul;51(1):85-93) |
| DX |
19920101 |
| HN |
2000(1992) |
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000401 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000523 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000652 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000151 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000209 |
| Machine permutation |
2000; see STIFF-MAN SYNDROME 1992-1999 |
| MDA |
19910429 |
| MMR |
20160120 |
| MN |
C10.668.900 C10.114.812 C10.228.854.790 C20.111.258.850 |
| notation |
D016750 |
| prefLabel |
Stiff-Person Syndrome |
| TERMUI |
T841608 T365296 T050217 T050218 T841603 T811986 T841607 T841605 T050216 T841602 T841604 |
| TH |
NLM (1992) NLM (2000) NLM (2014) ORD (2010) OMIM (2013) |
| tui |
T047 |
| subClassOf |
http://purl.bioontology.org/ontology/MESH/D020274 |