Thanks to the national Pompe disease registry, French clinicians are now describing more precisely the bulbar impairment and its repercussions in Pompe disease.
Out of 100 patients with the late form of the disease followed in 17 French hospitals :
- 18% had macroglossia and 11% atrophy of the tongue.
- 32% had swallowing problems associated with malnutrition,
- 9.5% did not feel able to eat outside the home and 1% needed a gastrostomy to eat,
Despite these difficulties, only 15% of patients with bulbar involvement receive speech therapy.
