Article

Motor deterioration is a key feature in metachromatic leukodystrophy (MLD).
The lack of data about its natural course impedes evaluation of therapeutic
interventions. This study aimed to provide data about motor decline in MLD.
METHOD: Fifty-nine patients (27 males, 32 females) with MLD (21 with
late-infantile MLD and 38 with juvenile MLD) were recruited within a nationwide
survey (the German LEUKONET). Median (range) age at onset was 17 months (9-27)
for the group with late-infantile MLD and 6 years 2 months (2y 11mo-14y) for the
group with juvenile MLD. Gross motor function was assessed using the Gross Motor
Function Classification for MLD. RESULTS: In late-infantile MLD, all patients
showed loss of all gross motor function until 3 years 4 months of age. Patients
with juvenile MLD showed a more variable and significantly longer motor decline
(p<0.001). For a patient with the juvenile form showing first gait disturbances,
the probability of remaining stable for more than 1 year was 84%, and 51% for
more than 2 years. Having lost independent walking, subsequent motor decline was
as steep as in the late-infantile form (median 5 mo, interquartile range 3-22).
INTERPRETATION: The course of motor disease was more variable in juvenile MLD
with respect to onset and dynamics. However, the motor decline after the loss of
independent walking was similarly steep in both forms. These data can serve as a
reference for clinical studies that are topics of current research and allow
definition of inclusion/exclusion criteria.
CI - (c) The Authors. Developmental Medicine & Child Neurology (c) 2011 Mac Keith Press.
Leucodystrophie métachromatique

Langue : ANGLAIS