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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.
See: This record
Not genetically inherited (Orphanet)
 
Monarch Initiative: MONDO:0018629
Orphanet: ORPHA443804

Term Hierarchy

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

Professional guidelines

PubMed

D-penicillamine in the treatment of localized scleroderma.
Falanga V, Medsger TA Jr
Arch Dermatol 1990 May;126(5):609-12. PMID: 2334179

Recent clinical studies

Etiology

Long-Term Observational Results from the ASPIRE Study: OnabotulinumtoxinA Treatment for Adult Lower Limb Spasticity.
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
The spectrum of disorders presenting as adult-onset focal lower extremity dystonia.
McKeon A, Matsumoto JY, Bower JH, Ahlskog JE
Parkinsonism Relat Disord 2008 Dec;14(8):613-9. Epub 2008 Mar 7 doi: 10.1016/j.parkreldis.2008.01.012. PMID: 18329318
Shoulder girdle neoplasms mimicking frozen shoulder syndrome.
Robinson D, Halperin N, Agar G, Alk D, Rami K
J Shoulder Elbow Surg 2003 Sep-Oct;12(5):451-5. doi: 10.1016/s1058-2746(03)00092-2. PMID: 14564266
The stiff man and stiff man plus syndromes.
Brown P, Marsden CD
J Neurol 1999 Aug;246(8):648-52. doi: 10.1007/s004150050425. PMID: 10460439
Review of 23 patients affected by the stiff man syndrome: clinical subdivision into stiff trunk (man) syndrome, stiff limb syndrome, and progressive encephalomyelitis with rigidity.
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

Stiff limb syndrome with lower limb myoclonus: A case report.
Zhang CG, Li LL, Feng YY, Chen J
Medicine (Baltimore) 2019 Dec;98(49):e18160. doi: 10.1097/MD.0000000000018160. PMID: 31804328Free PMC Article
Stiff-person syndrome: insights into a complex autoimmune disorder.
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
Stiff man syndrome and related conditions.
Meinck HM, Thompson PD
Mov Disord 2002 Sep;17(5):853-66. doi: 10.1002/mds.10279. PMID: 12360534
The stiff man and stiff man plus syndromes.
Brown P, Marsden CD
J Neurol 1999 Aug;246(8):648-52. doi: 10.1007/s004150050425. PMID: 10460439
Lower extremity manifestations of neuromuscular diseases.
Ramcharitar SI, Koslow P, Simpson DM
Clin Podiatr Med Surg 1998 Oct;15(4):705-37, vi-vii. PMID: 9917987

Therapy

Long-Term Observational Results from the ASPIRE Study: OnabotulinumtoxinA Treatment for Adult Lower Limb Spasticity.
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
Stiff limb syndrome with lower limb myoclonus: A case report.
Zhang CG, Li LL, Feng YY, Chen J
Medicine (Baltimore) 2019 Dec;98(49):e18160. doi: 10.1097/MD.0000000000018160. PMID: 31804328Free PMC Article
Anti-GAD Antibody-associated Syndrome Presenting with Limb Myoclonus.
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
Clinical manifestation of gadodiamide-related nephrogenic systemic fibrosis.
Marckmann P, Skov L, Rossen K, Thomsen HS
Clin Nephrol 2008 Mar;69(3):161-8. doi: 10.5414/cnp69161. PMID: 18397714
The spectrum of disorders presenting as adult-onset focal lower extremity dystonia.
McKeon A, Matsumoto JY, Bower JH, Ahlskog JE
Parkinsonism Relat Disord 2008 Dec;14(8):613-9. Epub 2008 Mar 7 doi: 10.1016/j.parkreldis.2008.01.012. PMID: 18329318

Prognosis

GAD65 neurological autoimmunity.
McKeon A, Tracy JA
Muscle Nerve 2017 Jul;56(1):15-27. Epub 2017 Apr 11 doi: 10.1002/mus.25565. PMID: 28063151
Stiff-person syndrome: insights into a complex autoimmune disorder.
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
The stiff man and stiff man plus syndromes.
Brown P, Marsden CD
J Neurol 1999 Aug;246(8):648-52. doi: 10.1007/s004150050425. PMID: 10460439
Lower extremity manifestations of neuromuscular diseases.
Ramcharitar SI, Koslow P, Simpson DM
Clin Podiatr Med Surg 1998 Oct;15(4):705-37, vi-vii. PMID: 9917987
Review of 23 patients affected by the stiff man syndrome: clinical subdivision into stiff trunk (man) syndrome, stiff limb syndrome, and progressive encephalomyelitis with rigidity.
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

Clinical prediction guides

Long-Term Observational Results from the ASPIRE Study: OnabotulinumtoxinA Treatment for Adult Lower Limb Spasticity.
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
GAD65 neurological autoimmunity.
McKeon A, Tracy JA
Muscle Nerve 2017 Jul;56(1):15-27. Epub 2017 Apr 11 doi: 10.1002/mus.25565. PMID: 28063151
Stiff-person syndrome: insights into a complex autoimmune disorder.
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
Shoulder girdle neoplasms mimicking frozen shoulder syndrome.
Robinson D, Halperin N, Agar G, Alk D, Rami K
J Shoulder Elbow Surg 2003 Sep-Oct;12(5):451-5. doi: 10.1016/s1058-2746(03)00092-2. PMID: 14564266
Lower extremity manifestations of neuromuscular diseases.
Ramcharitar SI, Koslow P, Simpson DM
Clin Podiatr Med Surg 1998 Oct;15(4):705-37, vi-vii. PMID: 9917987

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