In all patients, it was present hypotonia, ataxia and developmental delay of variable intensity. Mental retardation varied from profound to mild, and no respiratory abnormality was reported. [scielo.br]

Respiratory abnormalities, as hyperpnea and apnea, one of primary diagnostic criteria1,2, were not seen in our series. [scielo.br]

Early signs, as abnormal eye movements and respiratory abnormalities might suggest this possibility, but in most of cases, clinical features are non-specific. [scielo.br]

In all patients, it was present hypotonia, ataxia and developmental delay of variable intensity. Mental retardation varied from profound to mild, and no respiratory abnormality was reported. [scielo.br]

JS is characterized by congenital ataxia, hypotonia, developmental delay, and at least one of the following features: neonatal respiratory disturbances and abnormal eye movements, including nystagmus and oculomotor apraxia2. [scielo.br]