| CASE REPORT |
|
| Year : 2011 | Volume
: 59
| Issue : 6 | Page : 884--886 |
Glycogen storage disease type V (Mc Ardle's disease): A report on three cases
Naveen Krishnamoorthy1, Vani Santosh1, TC Yasha1, Anita Mahadevan1, SK Shankar1, Dilip Jethwani1, AB Taly2, K Bhanu3, N Gayathri1
1 Department of Neuropathology, National Institute of Mental Health and Neurosciences, Bangalore, India
2 Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, India
3 Department of Neurology, Madras Medical College, Chennai, India
Correspondence Address:
N Gayathri
Department of Neuropathology, NIMHANS, Bangalore - 560 029
India
DOI: 10.4103/0028-3886.91370
McArdle's disease (myophosphorylase deficiency), an uncommon autosomal recessive metabolic disorder, is characterized clinically by exercise intolerance beginning in childhood, myalgia, cramps, exercise-induced rhabdomyolysis, "second wind" phenomenon, elevated Creatine Kinase (CK) levels at rest, and previous episodes of raised CK levels following exercise. Several mutations in the PYGM gene and geographic variations have been described. We report three biopsy confirmed cases of McArdle's disease.
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