Literature DB >> 29881221

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

David Pomarino1, Stephan Martin2, Andrea Pomarino1, Stefanie Morigeau1, Saskia Biskup3.   

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.

Entities:  

Year:  2018        PMID: 29881221      PMCID: PMC5990294          DOI: 10.1016/j.jor.2018.05.024

Source DB:  PubMed          Journal:  J Orthop        ISSN: 0972-978X


  17 in total

1.  The effect of oral sucrose on exercise tolerance in patients with McArdle's disease.

Authors:  John Vissing; Ronald G Haller
Journal:  N Engl J Med       Date:  2003-12-25       Impact factor: 91.245

2.  Developmental implications of idiopathic toe walking.

Authors:  L H Shulman; D A Sala; M L Chu; P R McCaul; B J Sandler
Journal:  J Pediatr       Date:  1997-04       Impact factor: 4.406

3.  Congenital short tendo calcaneus. Report of a family.

Authors:  M S Levine
Journal:  Am J Dis Child       Date:  1973-06

4.  Cardiovascular and metabolic responses to exercise in a patient with McArdle's syndrome.

Authors:  D Porte; D W Crawford; D B Jennings; C Aber; M B McIlroy
Journal:  N Engl J Med       Date:  1966-08-25       Impact factor: 91.245

Review 5.  McArdle's disease-muscle glycogen phosphorylase deficiency.

Authors:  C Bartram; R H Edwards; R J Beynon
Journal:  Biochim Biophys Acta       Date:  1995-08-15

6.  Sensory dysfunction in children who toe walk.

Authors:  P Montgomery; J Gauger
Journal:  Phys Ther       Date:  1978-10

7.  Can patients with McArdle's disease run?

Authors:  M Pérez; M Moran; C Cardona; J L Maté-Muñoz; J C Rubio; A L Andreu; M A Martin; J Arenas; A Lucia
Journal:  Br J Sports Med       Date:  2006-09-25       Impact factor: 13.800

Review 8.  McArdle's disease with late-onset symptoms: case report and review of the literature.

Authors:  K J Felice; A B Schneebaum; H R Jones
Journal:  J Neurol Neurosurg Psychiatry       Date:  1992-05       Impact factor: 10.154

9.  From exercise intolerance to functional improvement: the second wind phenomenon in the identification of McArdle disease.

Authors:  Renata Siciliani Scalco; Sherryl Chatfield; Richard Godfrey; Jatin Pattni; Charlotte Ellerton; Andrea Beggs; Stefen Brady; Andrew Wakelin; Janice L Holton; Ros Quinlivan
Journal:  Arq Neuropsiquiatr       Date:  2014-07       Impact factor: 1.420

10.  Unique Exercise Lactate Profile in Muscle Phosphofructokinase Deficiency (Tarui Disease); Difference Compared with McArdle Disease.

Authors:  Päivi Piirilä; Minna E Similä; Johanna Palmio; Tomi Wuorimaa; Emil Ylikallio; Satu Sandell; Petri Haapalahti; Lasse Uotila; Henna Tyynismaa; Bjarne Udd; Mari Auranen
Journal:  Front Neurol       Date:  2016-05-30       Impact factor: 4.003

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