Muscular phosphorylase kinase deficiency

Overview

A very rare genetic defect which affects muscles and causes rapid fatigue on exertion and muscle cramping and weakness.

Symptoms

Exercise intolerance Muscle cramps Distal muscle weakness Increased serum creatine kinase level Reduced muscle phosphorylase kinase activity Distal muscle wasting Low blood sugar on exertion Weak legs Weak arms Weak abdominal muscles

Diagnosis

signs and symptoms of Muscular phosphorylase kinase deficiency may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of any signs or symptoms and whether they are indeed Muscular phosphorylase kinase deficiency symptoms.