McArdle’s disease: A differential diagnosis of idiopathic toe walking.

Authors

Pomarino D1, Martin S2, Pomarino A1, Morigeau S1, Biskup S3.
  1. Praxis Pomarino, Rahlstedtter Bahnhofstr. 9, 22143 Hamburg, Germany.
  2. DIAKOVERE Annastift, Department for Pediatrics and Neuro-orthopedics, Anna-vonBorries-Str. 1-7, 30625 Hannover, Germany.
  3. Praxis f. Humangenetik Tübingen, Paul-Ehrlich-Str. 23, 72076 Tübingen, Germany.

Abstract

Idiopathic toe walking (ITW) is a pathological gait pattern in which children walk on their tip toes with no orthopedic or neurological reason. Physiological characteristics of the gastrocnemius muscles, the Achilles tendon, and the foot of toe walkers differ from subjects with a plantigrade walking pattern. McArdle’s disease is characterized by the inability to break down muscle glycogen. It is an autosomal-recessive condition, characterized by low exercise tolerance, muscular atrophy at the shoulder girdle, episodes of myoglobinuria after vigorous physical activities and the occurrence of the second wind phenomenon. The aim of this review is to present the case studies of two subjects who were originally diagnosed as idiopathic toe walkers, but were then found to have McArdle’s disease. This review will describe some physical characteristics that distinguish McArdle´s disease from Idiopathic toe walkers.