Laing early-onset distal myopathy in a Belgian family.
We report the first Belgian family with Laing early-onset distal myopathy (MPD1). The proposita started limping at age 7. Later, there was severe weakness of proximal and distal muscles, including neck flexors. Her daughter developed foot drop at age 4. Progressive weakness of distal limb extensor muscles and mild weakness of the neck flexor and proximal muscles were noted. In both patients, CK and nerve conductions were normal, but EMG showed a brief, small amplitude, abundant, polyphasic potential pattern. Heart and respiration were normal. Several muscle biopsies have been performed in each with various diagnoses, including aspecific myopathic changes, congenital fibre type disproportion, and denervation-reinnervation. Analysis of MYH7 revealed a c.4522_4524del mutation (p.Glu1508del). This appears to be a de novo mutation, which has been reported in French, Norwegian, and Finnish patients.
Neuromuscular Reference Centre, UCL St-Luc, Department of Neurology, University Hospitals St-Luc, University of Louvain, Avenue Hippocrate 10, 1200, Brussels, Belgium, peter.vandenbergh@uclouvain.be.
P Y K
PY
Van den Bergh
J J
JJ
Martin
F
F
Lecouvet
B
B
Udd
E
E
Schmedding
D000368:Aged; D001530:Belgium; D024722:Cardiac Myosins / Q000235:genetics; D049310:Distal Myopathies / Q000235:genetics* / Q000473:pathology*; D005192:Family Health; D005260:Female; D006801:Humans; D018482:Muscle, Skeletal; D009154:Mutation / Q000235:genetics; D018995:Myosin Heavy Chains / Q000235:genetics
C501641:MYH7 protein, human; D024722:Cardiac Myosins; D018995:Myosin Heavy Chains