Type II Glycogen Storage Disease (Pompe Disease) Clinical Presentation

Updated: Aug 10, 2021
  • Author: Ricardo R Correa Marquez, MD, EsD, FACP, FACE, FAPCR, CMQ, ABDA, FACHT; Chief Editor: George T Griffing, MD  more...
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In the infantile classic subtype form, the caregiver may report feeding difficulties and difficulty breathing. [10] The child may also have an enlarged tongue and poor muscle tone.

In the infantile non-classic subtype form, delayed motor skills such as rolling over and sitting up may be reported.

In the adult form, the patient may report progressive limb-girdle weakness, with the pelvic muscle more affected than the scapulohumeral group.The patient may also report early tiredness and fatigue, along with sleep-disordered breathing.


Physical Examination

1. Infantile onset - Classic subtype: This type presents within a few months after birth and is characterized by the following:

Neuromuscular manifestations

  • Hypotonia since birth
  • Hyporeflexia/areflexia 
  • Muscle weakness
  • Contractures and joint deformities, such as lordosis and scoliosis, can occur because of compensatory movement patterns due to extensive weakness and limited mobility

Respiratory system

  • Respiratory muscle weakness can cause repeated episodes of pneumonia and upper respiratory tract infection
  • Respiratory insufficiency leads to early morbidity and mortality

Cardiovascular system

  • Hypertrophic cardiomyopathy
  • Congestive heart failure
  • Conduction disorders

Gastrointestinal and nutritional manifestations

  • Macroglossia
  • Difficulty in sucking due to facial hypotonia, oral motor weakness, and macroglossia; this can affect growth and weight gain
  • Hepatomegaly
  • Splenomegaly

2. Infantile onset - Non-classic subtype: This type usually presents within the first year of life and is less severe compared with the classic subtype; it is characterized by the following:

  • Delayed motor skills, such as sitting up and rolling over
  • Progressive muscle weakness
  • Cardiomegaly - Less likely compared with the classic subtype
  • Respiratory insufficiency

3. Adult onset: This type is characterized by the following:

     Musculoskeletal system

  • Progressive limb-girdle weakness followed by diaphragm and accessory respiratory muscles
  • Hyporeflexia
  • Gait disturbances
  • Myalgia and cramps
  • Amyotrophy
  • Fatigue and tiredness - Exercise intolerance

   Respiratory system

  • ​Dsypnea on exertion
  • Orthopnea
  • Sleep-disordered breathing
  • Sleep apnea
  • Weak cough
  • Frequent respiratory tract infections

   Additional features

  • Dysphagia
  • Difficulty in chewing
  • Weight loss
  • Subarachnoid hemorrhage - Especially in the basilar artery