Treatment with creatine monohydrate increases muscle strength in patients with neuromuscular disease, according to a new report in Neurology. 

Researcher Mark Tarnopolsky, M.D., Ph.D., designed the single-blind study. The 81 participants were given 10 grams of creatine monohydrate daily for 5 days, followed by 5 grams daily for 5-7 days. Body weight, hand grip, dorsiflexion, and knee extensor strength were measured before and after treatment.

The study included 17 patients with mitochondrial cytopathy.

Reference:

For more references on creatine, visit More Power To You.

Patients with rhabdomyolysis should be screened for a variety of muscle disorders, say the authors of a new diagnostic study.

Among 48 patients with a history of rhabdomyolysis, 4 patients were found to have phosphorylase deficiency, 1 had phosphofructokinase deficiency, and 1 had phosphorylase kinase deficiency. Also identified was a patient with Becker muscle dystrophy, 2 with unspecified dystrophies, and 1 with MELAS, a mitochondrial disorder..

None of the patients in the study were found to have CPT II deficiency.

Reference:
Lofberg M.et al. Acta Neurol Scand 1998 98(4):268-75

For more about rhabdomyolysis, visit Rhabdomyolysis: Taking it one day at a time and Anatomy of an attack.

One copy of certain CPT II mutations may be enough to cause symptoms, conclude the investigators of 13 patients with CPT II deficiency. Three known and three novel mutations were identified in this study. 

In addition, the investigators propose that heterozygotes who carry one copy of the mutations known as S113L or R503C may be at risk for developing symptoms during metabolic stress.

Reference:
Taggart, R.T. et al. Human Mutation 1999 13:210-220

Vladutiu, G.D. et al. Mol Genet Metab 2000 Jun;70(2):134-141
Another paper that traces the R503C mutation in one family.

For more about CPT mutations, visit Keep the change or CPT espanol.

For information on mutation screening for CPT II deficiency, visit On the spot.