Familial adult-onset Pompe disease associated with unusual clinical and histological features

Acta Myol. 2013 Oct;32(2):85-90.

Abstract

The adult-onset form of Pompe disease had a wide clinical spectrum, ranging from asymptomatic patients with increased CK to muscle cramps and pain syndrome or rigid-spine syndrome. In addition clinical severity and disease progression are greatly variable. We report on a family with 3 siblings characterized by an unusual adult-onset Pompe disease including dysphagia and weakness of tongue, axial and limb-girdle muscles, in association with atypical globular inclusions in muscle fibres. Our study confirms the great clinical and histological variability of adult-onset Pompe disease and further supports the need of careful evaluation of bulbar function in patients affected by this pathology.

Keywords: Pompe disease; bulbar symptoms; globular inclusions.

Publication types

  • Case Reports

MeSH terms

  • Age of Onset
  • Biopsy
  • Deglutition Disorders* / diagnosis
  • Deglutition Disorders* / etiology
  • Diagnosis, Differential
  • Electromyography / methods
  • Enzyme Replacement Therapy / methods*
  • Female
  • Glycogen Storage Disease Type II* / complications
  • Glycogen Storage Disease Type II* / diagnosis
  • Glycogen Storage Disease Type II* / epidemiology
  • Glycogen Storage Disease Type II* / physiopathology
  • Humans
  • Magnetic Resonance Imaging / methods
  • Male
  • Microscopy, Electron / methods
  • Middle Aged
  • Muscle Weakness* / etiology
  • Muscle Weakness* / pathology
  • Muscle Weakness* / physiopathology
  • Neurologic Examination / methods
  • Severity of Illness Index
  • Siblings
  • Tongue Diseases* / diagnosis
  • Tongue Diseases* / etiology
  • Tongue Diseases* / physiopathology
  • Treatment Outcome