The boy demonstrated poor language development, bidirectional horizontal gaze-evoked nystagmus, instability of stance, and wide-based ataxic gait; he was unable to stand and walk without major assistance. [jscimedcentral.com]

Both patients showed normal gait but demonstrated difficulty running. They performed their personal self-care and their contact with other people is good. Torres et al. [45] followed-up a child for 24 months (from the age of 16 to 40 months). [jscimedcentral.com]

The patient's mother said that her girl had recurrent rapid and shallow breathings during her first month of life; a diagnosis of recurrent pulmonary aspirations was done but her chest films were always normal-looking. [jscimedcentral.com]

This facial dysmorphism encompasses long face, frontal prominence, bitemporal narrowing, ptosis, prominent nasal bridge and tip, prognathism, eyebrow abnormalities, trapezoid shaped mouth, lower lip eversion, and thick ear lobes. [jscimedcentral.com]

Abstract Joubert syndrome is an autosomal recessive disorder characterized by a variable combination of mental retardation, cerebellar ataxia, episodic hyperpnea, eye movement abnormalities, generalized hypotonia, and the molar-tooth sign visible on brain [jscimedcentral.com]

A 7-month-old girl presented to the pediatric outpatient clinic with developmental delay and abnormal eye movements. [pediatricneurosciences.com]

movement abnormalities Axial myoclonus, dystonia, vibratory loss Late onset can be pure ataxia -- 19q13.4 Protein kinase C gamma type (PRKC) Spinocerebellar ataxia (SCA15/SCA 16) OMIM #606658 Pure ataxia with slow progression Tremor Mutations or deletions [emedicine.medscape.com]

Delayed language development is very common and results from the combination of speech ataxia, oro-motor apraxia, mental subnormality, and autistic and behavioral disorders [12]. [jscimedcentral.com]

Disorders 3 Epileptic encephalopathy, childhood-onset 6 Epileptic encephalopathy, early infantile, 1 5 Epileptic Encephalopathy, Early Infantile, 10 4 Epileptic Encephalopathy, Early Infantile, 11 6 Epileptic Encephalopathy, Early Infantile, 12 4 Epileptic [preventiongenetics.com]

forehead - Nystagmus Occasional - Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect - Anteverted nares / nostrils - Cleft lip and palate - Coloboma of iris - Congenital cardiac anomaly / malformation / cardiopathy [csbg.cnb.csic.es]

Speech and language delays common. [apraxia-kids.org]

delay Laboratory findings Elevated 4-hydroxybutyric acid in plasma, urine, and CSF High free GABA in CSF Cerebellar atrophy on MRI Treatment L-carnitine supplementation has been tried with improvement in muscle tone. [emedicine.medscape.com]

Hodgkin et al. [30] found that behavioral problems commonly develop with increasing age. [jscimedcentral.com]

She was wearing a foot orthosis because of bilateral flaccid ankles and foot drops. A diagnosis of spinocerebellar ataxia was made at the age of 5 years because of delayed milestones and gross gait ataxia. [jscimedcentral.com]

The generalized seizures of patient 1 had been well-controlled using lamotrigine tablets (100 mg twice a day). His gait ataxia and mental retardation have not been changed since 2011. Severe visual loss has been documented in some children. [jscimedcentral.com]

He developed recurrent generalized tonic-clonic seizures during the year 2009, which were not responding to oral phenytoin. A pediatrician had diagnosed him with ataxic cerebral palsy. [jscimedcentral.com]