Stiff person syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: PERM, INCLUDED
STIFF-TRUNK SYNDROME PROGRESSIVE ENCEPHALOMYELITIS WITH RIGIDITY, INCLUDED
STIFF-MAN SYNDROME
PER, INCLUDED
SPS
Moersch-Woltman syndrome
Stiff man syndrome
Number of Symptoms 39
OrphanetNr: 3198
OMIM Id: 184850
ICD-10: G25.8
UMLs:
MeSH:
MedDRA: 10042044
Snomed: 5217008

Prevalence, inheritance and age of onset:

Prevalence: 0.1 of 100 000 [Orphanet]
Inheritance: Sporadic
[Omim]
Age of onset: Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Other rare diabetes mellitus
 -Rare endocrine disease
Rare movement disorder
 -Rare neurologic disease
Rare neuroinflammatory or neuroimmunological disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0001347) Hyperreflexia 363 / 7739
2
(HPO:0002359) Frequent falls 24 / 7739
3
(HPO:0000756) Agoraphobia 4 / 7739
4
(HPO:0002063) Rigidity 92 / 7739
5
(HPO:0002267) Exaggerated startle response 42 / 7739
6
(HPO:0000739) Anxiety 67 / 7739
7
(HPO:0000716) Depression 99 / 7739
8
(HPO:0002179) Opisthotonus 35 / 7739
9
(HPO:0003739) Myoclonic spasms 7 / 7739
10
(HPO:0002938) Lumbar hyperlordosis 73 / 7739
11
(HPO:0001045) Vitiligo 13 / 7739
12
(HPO:0000975) Hyperhidrosis 64 / 7739
13
(HPO:0000822) Hypertension 224 / 7739
14
(HPO:0001649) Tachycardia 53 / 7739
15
(HPO:0001903) Anemia 289 / 7739
16
(HPO:0001945) Fever 218 / 7739
17
(HPO:0002960) Autoimmunity 78 / 7739
18
(HPO:0007156) Asymmetric limb muscle stiffness 1 / 7739
19
(HPO:0006921) Axial muscle stiffness 1 / 7739
20
(HPO:0007066) Proximal limb muscle stiffness 1 / 7739
21
(OMIM) Paraneoplastic SPS is associated with breast cancer and other malignancies 1 / 7739
22
(OMIM) EMG shows involuntary continuous motor activity at rest 1 / 7739
23
(OMIM) Stiff gait 2 / 7739
24
(HPO:0003581) Adult onset 117 / 7739
25
(OMIM) Heightened sensitivity to external stimuli 1 / 7739
26
(OMIM) Approximately 10% of cases are paraneoplastic 1 / 7739
27
(HPO:0003745) Sporadic 131 / 7739
28
(OMIM) Axial muscle stiffness, symmetric 1 / 7739
29
(OMIM) Associated with autoantibodies to GAD65 (anti-glutamic acid decarboxylase GAD2, 138275) in serum and/or cerebrospinal fluid 1 / 7739
30
(OMIM) Limb muscle stiffness is often asymmetric 1 / 7739
31
(OMIM) Paraneoplastic SPS is associated with autoantibodies to amphiphysin (AMPH, 600418) 1 / 7739
32
(OMIM) Specific phobias 1 / 7739
33
(OMIM) Autonomic features may occur 2 / 7739
34
(OMIM) Myoclonic spasms, superimposed episodic, severe, painful (characterized by activation of antagonistic muscle pairs, may involve facial muscles) 1 / 7739
35
(OMIM) Muscle stiffness and rigidity, chronic, fluctuating 1 / 7739
36
(OMIM) Associated with serum autoantibodies to GLRA1 (glycine receptor alpha-1 subunit 138491, reported in 1 patient) 1 / 7739
37
(OMIM) Approximately 60% of patients have anti-GAD65 antibodies 1 / 7739
38
(OMIM) Associated with autoimmune disorders (e.g., diabetes mellitus, thyroiditis, pernicious anemia, vitiligo) 2 / 7739
39
(OMIM) Lumbar paraspinal rigidity causes exaggerated lumbar lordosis 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) The stiff-person syndrome (SPS) is most often an adult-onset sporadic acquired disorder characterized by progressive muscle stiffness with superimposed painful muscle spasms accompanied by electromyographic evidence of continuous motor activity at rest. SPS has been associated with autoimmune ...
Clinical Description OMIM Moersch and Woltman (1956) reported stiff-man syndrome in patients with progressive fluctuating muscular rigidity and spasms.

Solimena et al. (1988) reported a patient with stiff-man syndrome characterized by fluctuating muscle rigidity with painful spasms. He also ...