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Focal stiff limb syndrome

MedGen UID:
1672496
Concept ID:
C4324606
Disease or Syndrome
Synonyms: focal stiff limb syndrome; Focal stiff-person syndrome; focal stiff-person syndrome; Stiff leg syndrome
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Monarch Initiative: MONDO:0018629
Orphanet: ORPHA443804

Definition

A rare stiff person spectrum disorder characterized by painful episodic spasms (which are often precipitated by touch, pain, cold, movement, or negative emotions), increased stimulus sensitivity including hyperekplexia, as well as stiffness, in a lower or upper limb, typically with insidious onset and progression over months or years. The condition may eventually progress into classic stiff person syndrome. Fear of leaving the house and walking unaided is characteristic. Most patients have autoantibodies in serum and CSF, in particular anti-glutamic acid decarboxylase (GAD) antibodies. In rare cases, the syndrome is of paraneoplastic origin. [from ORPHANET]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFocal stiff limb syndrome

Professional guidelines

PubMed

Falanga V, Medsger TA Jr
Arch Dermatol 1990 May;126(5):609-12. PMID: 2334179

Recent clinical studies

Etiology

Sanchez-Espino LF, Sibbald C, Stimec J, Laxer RM, Pope E
Pediatr Dermatol 2024 Jan-Feb;41(1):16-22. Epub 2023 Oct 20 doi: 10.1111/pde.15459. PMID: 37864376
Sidransky MA, Tran NV, Kaye AD
Middle East J Anaesthesiol 2013 Jun;22(2):217-21. PMID: 24180175
Marckmann P, Skov L, Rossen K, Thomsen HS
Clin Nephrol 2008 Mar;69(3):161-8. doi: 10.5414/cnp69161. PMID: 18397714
Brown P, Marsden CD
J Neurol 1999 Aug;246(8):648-52. doi: 10.1007/s004150050425. PMID: 10460439
Barker RA, Revesz T, Thom M, Marsden CD, Brown P
J Neurol Neurosurg Psychiatry 1998 Nov;65(5):633-40. doi: 10.1136/jnnp.65.5.633. PMID: 9810930Free PMC Article

Diagnosis

Cullinane PW, Carr AS, Irani SR, Warner TT
Handb Clin Neurol 2024;203:211-233. doi: 10.1016/B978-0-323-90820-7.00003-3. PMID: 39174250
Manzke P, Grippe T, Tavares GL, Leal LC, Roze E, Apartis E, Maciel Dias R, Ferreira AGF
Tremor Other Hyperkinet Mov (N Y) 2018;8:590. Epub 2018 Nov 1 doi: 10.7916/D8NK4XVP. PMID: 30622836Free PMC Article
Baizabal-Carvallo JF, Jankovic J
J Neurol Neurosurg Psychiatry 2015 Aug;86(8):840-8. Epub 2014 Dec 15 doi: 10.1136/jnnp-2014-309201. PMID: 25511790
Meinck HM, Thompson PD
Mov Disord 2002 Sep;17(5):853-66. doi: 10.1002/mds.10279. PMID: 12360534
Brown P, Marsden CD
J Neurol 1999 Aug;246(8):648-52. doi: 10.1007/s004150050425. PMID: 10460439

Therapy

Wei M, Bannout F, Dastjerdi M, Phan C, Batarseh S, Guo X, Baker N
BMJ Case Rep 2024 Jun 13;17(6) doi: 10.1136/bcr-2024-260503. PMID: 38871638
Esquenazi A, Bavikatte G, Bandari DS, Jost WH, Munin MC, Tang SFT, Largent J, Adams AM, Zuzek A, Francisco GE
PM R 2021 Oct;13(10):1079-1093. Epub 2021 Jan 11 doi: 10.1002/pmrj.12517. PMID: 33151636Free PMC Article
Zhang CG, Li LL, Feng YY, Chen J
Medicine (Baltimore) 2019 Dec;98(49):e18160. doi: 10.1097/MD.0000000000018160. PMID: 31804328Free PMC Article
Manzke P, Grippe T, Tavares GL, Leal LC, Roze E, Apartis E, Maciel Dias R, Ferreira AGF
Tremor Other Hyperkinet Mov (N Y) 2018;8:590. Epub 2018 Nov 1 doi: 10.7916/D8NK4XVP. PMID: 30622836Free PMC Article
Marckmann P, Skov L, Rossen K, Thomsen HS
Clin Nephrol 2008 Mar;69(3):161-8. doi: 10.5414/cnp69161. PMID: 18397714

Prognosis

McKeon A, Tracy JA
Muscle Nerve 2017 Jul;56(1):15-27. Epub 2017 Apr 11 doi: 10.1002/mus.25565. PMID: 28063151
Baizabal-Carvallo JF, Jankovic J
J Neurol Neurosurg Psychiatry 2015 Aug;86(8):840-8. Epub 2014 Dec 15 doi: 10.1136/jnnp-2014-309201. PMID: 25511790
Brown P, Marsden CD
J Neurol 1999 Aug;246(8):648-52. doi: 10.1007/s004150050425. PMID: 10460439
Ramcharitar SI, Koslow P, Simpson DM
Clin Podiatr Med Surg 1998 Oct;15(4):705-37, vi-vii. PMID: 9917987
Dyck PJ, Giannini C
J Neuropathol Exp Neurol 1996 Dec;55(12):1181-93. doi: 10.1097/00005072-199612000-00001. PMID: 8957441

Clinical prediction guides

Esquenazi A, Bavikatte G, Bandari DS, Jost WH, Munin MC, Tang SFT, Largent J, Adams AM, Zuzek A, Francisco GE
PM R 2021 Oct;13(10):1079-1093. Epub 2021 Jan 11 doi: 10.1002/pmrj.12517. PMID: 33151636Free PMC Article
McKeon A, Tracy JA
Muscle Nerve 2017 Jul;56(1):15-27. Epub 2017 Apr 11 doi: 10.1002/mus.25565. PMID: 28063151
Baizabal-Carvallo JF, Jankovic J
J Neurol Neurosurg Psychiatry 2015 Aug;86(8):840-8. Epub 2014 Dec 15 doi: 10.1136/jnnp-2014-309201. PMID: 25511790
Cook C, Goode A
Physiother Theory Pract 2007 Jul-Aug;23(4):231-41. doi: 10.1080/09593980701209337. PMID: 17687736
Ramcharitar SI, Koslow P, Simpson DM
Clin Podiatr Med Surg 1998 Oct;15(4):705-37, vi-vii. PMID: 9917987

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