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Clinical Anatomical And Epidemiologic Study Of 11 Patients With McArdle’s Disease (P3.295)

2014; Lippincott Williams & Wilkins; Volume: 82; Issue: 10_supplement Linguagem: Inglês

10.1212/wnl.82.10_supplement.p3.295

1526-632X

Alzira Alves de Siqueira Carvalho, Pamela de Oliveira Delgado, Miriam Eva Koch, David Feder,

Growth Hormone and Insulin-like Growth Factors

The objective was to analyze clinically and epidemiologically nine patients with McArdle. Background:Mc Ardle’s disease, also known as Glycogenosis Type V was described for the first time in 1951 by McArdle, It is an autossomic recessive disease, although it prevails in male sex. It is the most frequent glycogenosis. It characterizes by the absence of the enzyme miofosforilase b in the muscle. The incidence of McArdle is 1:100.000. It characterizes for the exercise intolerance, myalgia and painful cramping since childhood/adolescence triggered by physical activity. Exercise may produce dark urine or even a rhabdomyolysis. Methods: We have studied 11 patients with Mc Ardle’s disease from clinical, laboratorial and anatomical-pathological view. Results:11 patients, 8 men and 3 women. 100%: Symptoms since childhood/adolescence; intolerance to physical exercise: 100%: High CPK in rest: 100%, from 4 to 22 times the reference value (less than 180); average age of diagnosis: 33,83 years; race: 88% white; ancestry: portuguese: 33% and brazilian: 66%; cramps: 66%; myalgia: 77% ; fadigue:100%, dark urine: 66%, average age of diagnosis: 39.6 years; muscle’s biopsy: 77%, absent of miofosforilase:100%; presence of fosfofrutoquinase:100%. Conclusions: The importance of the study refers to the fact that McArdle is under diagnosis due to the genetic and clinical heterogeneity. A significant number of McArdle’s patients are only diagnosed in adult life, even though their symptoms/signals have been present since childhood/adolescence. This means the diagnosis passes by unnoticed in the majority, leaving the patient subject to fatal consequences. Disclosure: Dr. Carvalho has nothing to disclose. Dr. Delgado has nothing to disclose. Dr. Koch has nothing to disclose. Dr. Feder has nothing to disclose.