Glycogen storage disease type V

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

Glycogen storage disease type V
ICD-10 E74.0
ICD-9 271.0
OMIM 232600
DiseasesDB 5307
eMedicine med/911 
MeSH D006012

Overview

Glycogen storage disease type V is a metabolic disorder, more specifically a glycogen storage disease, caused by a deficiency of myophosphorylase.

GSD type V is also known as McArdle's disease or muscle phosphorylase deficiency. The disease was first reported in 1951 by Dr. Brian McArdle of Guy's Hospital, London.[1]

People with this disease experience difficulty when their muscles are called upon to perform relatively brief yet intense activity. The inability to break down glycogen into glucose results in an energy shortage within the muscle, resulting in muscle pain and cramping, and sometimes causing serious injury to the muscles. The typical features of McArdle disease include exercise intolerance with myalgia, early fatigue, and stiffness of exercising muscles, which are sometimes relieved by rest. Following a short period of rest, most patients experience a second wind and can resume exercise with less difficulty.The prevailing levels of fatty acids as potential energy sources for muscle may account for the second wind phenomenon. In addition, rhabdomyolysis—the breakdown of muscle tissue—can cause myoglobinuria, a red-to-brown-colored urine. The myoglobinuria can cause kidney damage. The disease is hereditary and is inherited as an autosomal recessive trait. Anaerobic exercise must be avoided but regular gentle aerobic exercise is beneficial.

Historical Perspective

  • McArdle's disease was first described by Brian McArdle, a Scottish physician, in 1951.[2]
  • In 1993, the first PYGM pathogenic mutations were described.[3]

Classification

Pathophysiology

Causes

Differentiating Glycogen storage disease type V from Other Diseases

Epidemiology and Demographics

  • The prevalence of McArdle's disease is approximately 1 in 167,000 individuals in spanish community.[4]
  •  The prevalence of McArdle's disease is approximately 1 in 100,000 individuals in Texas, USA.[5]

Risk Factors

Screening

Natural History, Complications, and Prognosis

Diagnosis

Diagnostic Criteria

History and Symptoms

Physical Examination

Laboratory Findings

Imaging Findings

Other Diagnostic Studies

  • McArdles disease is genetically heterogeneous.
  • Most common mutation that is seen in McArdle's disease is substitution of thymine for cytosine at codon 49.
  • In 90% patients, their leukocyte can be used to make diagnosis.
  • By doing this muscle biopsy can be avoided.

Treatment

Medical Therapy

Surgery

Prevention

External links


References

  1. Brian McArdle at Who Named It
  2. McARDLE B (1951). "Myopathy due to a defect in muscle glycogen breakdown". Clin Sci. 10 (1): 13–35. PMID 24540673. 
  3. Bartram C, Edwards RH, Clague J, Beynon RJ (1993). "McArdle's disease: a nonsense mutation in exon 1 of the muscle glycogen phosphorylase gene explains some but not all cases". Hum. Mol. Genet. 2 (8): 1291–3. PMID 8401511. 
  4. Lucia A, Ruiz JR, Santalla A, Nogales-Gadea G, Rubio JC, García-Consuegra I, Cabello A, Pérez M, Teijeira S, Vieitez I, Navarro C, Arenas J, Martin MA, Andreu AL (2012). "Genotypic and phenotypic features of McArdle disease: insights from the Spanish national registry". J. Neurol. Neurosurg. Psychiatry. 83 (3): 322–8. PMID 22250184. doi:10.1136/jnnp-2011-301593. 
  5. Haller RG (2000). "Treatment of McArdle disease". Arch. Neurol. 57 (7): 923–4. PMID 10891971. 
de:Morbus McArdlefi:McArdlen tauti



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