Comparison of clinical features in the present cases and previous cases of PROMM with leukoencephalopathy reported by Hund et al13

Clinical featuresPresent casesPrevious cases (n=6) with leukoencephalopathy
1-12-12-2
Age (y)49281733-62
Age at onset343-6th decades
WeaknessModerateMildMildMild to severe
Muscular hypertrophyYesYesYesNot reported
Myotonia (clinical)MildMildMildMild
CataractsYesNoNoYes
White matter changesYesNoNoYes
IQ76NTNTNT