Reversible severe myopathy of respiratory muscles due to adult-onset type III glycogenosis.

Abstract

Subacute severe myopathy of the respiratory muscles developed in a 47-year-old woman after a 3-week period of strict fasting. Histological and biochemical work-up of muscle biopsy specimens permitted the diagnosis of debrancher deficiency. The course of the disease was characterized by subacute respiratory failure and prolonged mechanical ventilation. After initiation of a high-protein diet the patient was successfully weaned from the respirator and recovered well. To our knowledge this is the first reported case of adult-onset debrancher deficiency myopathy presenting with subacute respiratory failure and responding to high-protein diet.

• Authors: S Kiechl, J Willeit, W Vogel, U Kohlendorfer, W Poewe
• Journal: Neuromuscular disorders : NMD (Neuromuscul Disord) Vol. 9 Issue 6-7 Pg. 408-10 (Oct 1999) ISSN: 0960-8966 [Print] England
• PMID: 10545045 (Publication Type: Case Reports, Journal Article)

Chemical References

• Dietary Proteins

Topics

• Age of Onset
• Biopsy
• Dietary Proteins
• Female
• Glycogen Storage Disease Type III (pathology, physiopathology, therapy)
• Humans
• Middle Aged
• Muscle Fibers, Skeletal (pathology)
• Muscle, Skeletal (pathology)
• Respiration, Artificial
• Treatment Outcome
• Ventilator Weaning