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Calpainopathy information


Calpainopathy
Other namesLGMDR1, LMGD2A
Calpainopathy overview
SpecialtyNeurology, neuromuscular medicine
Symptomsproximal muscle weakness, scapular winging
Usual onset2 - 40 years of age
DurationLong term
TypesPelvifemoral, scapulohumeral, hyperCKemia, autosomal dominant
CausesGenetic (inherited or new mutation)
Diagnostic methodGenetic testing
Differential diagnosisOther LGMD2, facioscapulohumeral muscular dystrophy, dystrophinopathy, Metabolic myopathy[1]
ManagementPhysical therapy, bracing, orthopedic surgery
Frequency1-9/100,000

Calpainopathy is the most common type of autosomal recessive limb-girdle muscular dystrophy (LGMD).[2] It preferentially affects the muscles of the hip girdle and shoulder girdle.

No disease modifying pharmaceuticals have been developed as of 2019, although physical therapy, lifestyle modification, and orthopedic surgery can address symptoms.

  1. ^ Cite error: The named reference Angelini1993Review was invoked but never defined (see the help page).
  2. ^ Pollitt, C; Anderson, LV; Pogue, R; Davison, K; Pyle, A; Bushby, KM (April 2001). "The phenotype of calpainopathy: diagnosis based on a multidisciplinary approach". Neuromuscular Disorders. 11 (3): 287–96. doi:10.1016/s0960-8966(00)00197-8. PMID 11297944. S2CID 20081475.

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