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Axial muscle stiffness

MedGen UID:
870515
Concept ID:
C4024962
Finding
HPO: HP:0006921

Definition

Stiffness (a condition in which muscles cannot be moved quickly without accompanying pain or spasm) of the axial musculature. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Axial muscle stiffness

Conditions with this feature

Stiff-man syndrome
MedGen UID:
39017
Concept ID:
C0085292
Disease or Syndrome
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 disorders, diabetes mellitus, thyrotoxicosis, and hypopituitarism with adrenal insufficiency (George et al., 1984). Approximately 60% of patients with SPS have antibodies to glutamic acid decarboxylase (GAD2, or GAD65; 138275), the rate-limiting enzyme in the synthesis of the inhibitory neurotransmitter gamma-aminobutyric acid (GABA), suggesting an immune-mediated pathogenesis (Folli et al., 1993). Approximately 10% of patients develop SPS as a paraneoplastic neurologic disorder associated with antibodies to amphiphysin (AMPH; 600418), an intracellular protein associated with neuronal synaptic vesicle endocytosis (Burns, 2005). See also congenital stiff-man syndrome, or hereditary hyperexplexia (149400), which is caused by mutations in subunits of the glycine receptor gene (GLRA1, 138491; GLRB, 138492). Meinck and Thompson (2002) provided a detailed review of stiff-person syndrome. They also discussed 2 possibly related conditions, progressive encephalomyelitis with rigidity (PERM), a more severe disorder with other neurologic features, and stiff-limb or stiff-leg syndrome, a focal disorder.

Professional guidelines

PubMed

Hart FD
Drugs 1987 Mar;33(3):280-7. doi: 10.2165/00003495-198733030-00004. PMID: 3552598

Recent clinical studies

Prognosis

Del Bigio MR, Chudley AE, Sarnat HB, Campbell C, Goobie S, Chodirker BN, Selcen D
Ann Neurol 2011 May;69(5):866-71. Epub 2011 Feb 18 doi: 10.1002/ana.22331. PMID: 21337604Free PMC Article

Clinical prediction guides

Del Bigio MR, Chudley AE, Sarnat HB, Campbell C, Goobie S, Chodirker BN, Selcen D
Ann Neurol 2011 May;69(5):866-71. Epub 2011 Feb 18 doi: 10.1002/ana.22331. PMID: 21337604Free PMC Article

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