Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Term ID:10671
Name:Stiff-Person Syndrome
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)
Alternative IDs:OMIM:184850
ParentIDs:MESH:D009468|MESH:D013118|MESH:D020274
TreeNumbers:C10.114.812 |C10.228.854.790 |C10.668.900 |C20.111.258.850
Synonyms:Congenital Stiff-Man Syndrome |Congenital Stiff-Person Syndrome |Familial Hyperekplexia |Hereditary Hyperekplexia |Hyperekplexia |Moersch Woltmann Syndrome |Moersch-Woltmann Syndrome |PER, INCLUDED |PERM, INCLUDED |SPS |Startle Syndrome |Stiff-Baby Syndrome |Stiffma
Slim Mappings:Immune system disease|Nervous system disease
Reference: MedGen: D016750
MeSH: D016750
OMIM: 184850;

Genes:
Phenotypes
1 HP:0002960Autoimmunity
2 HP:0003581Adult onset
3 HP:0000756Agoraphobia
4 HP:0001903Anemia
5 HP:0000739Anxiety
6 HP:0007156Asymmetric limb muscle stiffness
7 HP:0006921Axial muscle stiffness
8 HP:0000716Depression
9 HP:0002267Exaggerated startle response
10 HP:0001945Fever
11 HP:0002359Frequent falls
12 HP:0000975Hyperhidrosis
13 HP:0001347Hyperreflexia
14 HP:0000822Hypertension
15 HP:0002938Lumbar hyperlordosis
16 HP:0003739Myoclonic spasms
17 HP:0002179Opisthotonus
18 HP:0007066Proximal limb muscle stiffness
19 HP:0002063Rigidity
20 HP:0003745Sporadic
21 HP:0001649Tachycardia
22 HP:0001045Vitiligo
Disease Causing ClinVar Variants