Recent observations indicate that the phenotypic range of the disease is much wider than initially thought. Currently, no treatment is available.
Patients with LBSL typically first become symptomatic in early childhood, most commonly between two and six years of age, but there are early-onset and juvenile-onset forms as well
Typical symptoms include -
ataxia, particularly gait ataxia
spasticity, affecting legs more than arms
proprioceptive loss
A minority of patients may additionally have intellectual disability, epilepsy or dysarthria.
Patients may eventually require walking aids or may be dependent on wheelchairs, with approximately half of all patients needing some sort of mobility aid by 18 years of age.
LBSL was first described by Marjo S van der Knaap (1958-), a Dutch pediatric neurologist, and her international colleagues in 2002 .
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