Type II Glycogen Storage Disease (Pompe Disease) Clinical Presentation

Updated: Apr 24, 2017
  • Author: Wayne E Anderson, DO, FAHS, FAAN; Chief Editor: George T Griffing, MD  more...
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In the infantile form, the caregiver may report feeding difficulties and difficulty breathing. [7] The child may also have an enlarged tongue and poor muscle tone.

An intermediate form manifests with muscle weakness in childhood.

In the adult form, the patient may have limb-girdle weakness. An important feature of the adult form is the respiratory muscle weakness.



Infantile form

  • Several findings are characteristic, although many findings are not specific for this condition. Cardiomegaly is less likely in other diseases and helps confirm diagnosis.

  • Hypotonia is generalized and affects bulbar musculature.

  • Muscle atrophy is absent.

  • Congestive heart failure or cardiomegaly is an important finding and suggests the diagnosis. This may be accompanied by a systolic murmur.

  • Macroglossia may be present.

  • Hepatomegaly may be present.

  • Reflexes may be depressed or absent because of glycogen accumulation in spinal motor neurons.

  • Alertness may be impaired.

  • Diagnosis may be difficult because of calf hypertrophy, a rare finding that is characteristic of Duchenne muscular dystrophy.

Adult form

  • Findings may be less likely to suggest this diagnosis.

  • Particular muscle groups may be affected, such as the upper arms and pectoral muscles. Asymmetry of affected muscle groups may be present.

  • Limb-girdle weakness is a prominent finding.

  • Respiratory muscle involvement is a hallmark of Pompe disease.