Juvenile-onset permanent weakness in muscle phosphofructokinase deficiency

Edoardo Malfatti; Nazha Birouk; Norma B Romero; Monique Piraud; François M Petit; Jean-Yves Hogrel; Pascal Laforêt

doi:10.1016/j.jns.2012.01.027

Juvenile-onset permanent weakness in muscle phosphofructokinase deficiency

J Neurol Sci. 2012 May 15;316(1-2):173-7. doi: 10.1016/j.jns.2012.01.027. Epub 2012 Feb 23.

Authors

Edoardo Malfatti¹, Nazha Birouk, Norma B Romero, Monique Piraud, François M Petit, Jean-Yves Hogrel, Pascal Laforêt

Affiliation

¹ Unité de Morphologie Neuromusculaire Institut de Myologie, GH Pitié-Salpêtrière, Paris, France.

PMID: 22364848
DOI: 10.1016/j.jns.2012.01.027

Abstract

We describe a 41-year-old Moroccan woman with phosphofructokinase (PFK) deficiency who presented slowly progressive muscular weakness since childhood, without rhabdomyolysis episode or hemolytic anemia. Deltoid biopsy revealed massive glycogen storage in the majority of muscle fibers and polysaccharide deposits. PFK activity in muscle was totally absent. A novel homozygous non-sense mutation was detected in PFKM gene. Our observation suggests that juvenile-onset fixed muscle weakness may be a predominant clinical feature of PFK deficiency. Vacuolar myopathy with polyglucosan deposits remains an important morphological hallmark of this rare muscle glycogenosis.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Age Factors
Female
Glycogen Storage Disease Type VII / complications*
Glycogen Storage Disease Type VII / diagnosis*
Glycogen Storage Disease Type VII / genetics
Humans
Muscle Weakness / complications*
Muscle Weakness / diagnosis*
Muscle Weakness / genetics
Mutation, Missense / genetics