Muscle contracture: Difference between revisions

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In GSD-V and GSD-VII, a cramp or contracture is managed by cessation of the causal activity until pain resolves; however, repeated episodes can accumulate muscle damage ''(see below under fibrosis)''.<ref name=":0" /> Unlike stretching of muscle cramps, stretching of a muscle in contracture should be avoided as it may cause further muscle damage by tearing muscle fibres (i.e. resist uncurling the fingers of a "clawed" hand).<ref name=":0" /><ref name=":1" />
 
=== Congenital myopathiesmuscular dystrophies ===
Some congenital myopathiesmuscular dystrophies, such as [[Bethlem myopathy]] and, [[Ullrich congenital muscular dystrophy]], Merosin-deficient congenital muscular dystrophy (MDC1A) or LAMA2-related CMD, [[rigid spine syndrome]] and LMNA-related congenital muscular dystrophy cause muscle contractures to develop.<ref name=":2">{{Cite journal |last=Bönnemann |first=Carsten G. |date=2011-06-21 |title=The collagen VI-related myopathiesmuscular dystrophies: muscle meets its matrix |journal=Nature Reviews. Neurology |volume=7 |issue=7 |pages=379–390 |doi=10.1038/nrneurol.2011.81 |issn=1759-4758 |pmc=5210181 |pmid=21691338}}</ref><ref>{{cite journal |last1=El-Sobky |first1=Tamer A. |last2=Abdulhady |first2=Hala |last3=Mahmoud |first3=Shady |last4=Amen |first4=John |title=Orthopedic manifestations of congenital muscular dystrophy subtypes in children: Emerging signatures need consolidation: a scoping review |journal=Journal of Musculoskeletal Surgery and Research |date=31 January 2024 |volume=8 |pages=11–23 |doi=10.25259/JMSR_229_2023}}</ref> In these[[Bethlem twomyopathy]] myopathiesand [[Ullrich congenital muscular dystrophy]], mutations in [[collagen]] VI and XII genes result in deficient or dysfunctional microfibrillar collagen in the extracellular matrix of muscle and other connective tissues.<ref name=":2" /><ref>{{Cite journal |last1=Hicks |first1=Debbie |last2=Farsani |first2=Golara Torabi |last3=Laval |first3=Steven |last4=Collins |first4=James |last5=Sarkozy |first5=Anna |last6=Martoni |first6=Elena |last7=Shah |first7=Ashoke |last8=Zou |first8=Yaqun |last9=Koch |first9=Manuel |last10=Bönnemann |first10=Carsten G. |last11=Roberts |first11=Mark |last12=Lochmüller |first12=Hanns |last13=Bushby |first13=Kate |last14=Straub |first14=Volker |date=2014-05-01 |title=Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy |url=https://pubmed.ncbi.nlm.nih.gov/24334769/ |journal=Human Molecular Genetics |volume=23 |issue=9 |pages=2353–2363 |doi=10.1093/hmg/ddt637 |issn=1460-2083 |pmid=24334769|doi-access=free }}</ref> The potential effects on muscle include progressive dystrophic changes, fibrosis and evidence for increased apoptosis. In Bethlem myopathy 1, contractures presenting in infancy may resolve by age 2 years, but reoccur as the disease progresses, typically by late of the first decade or early teens.<ref name=":2" />
 
=== Ischemia ===