He was unsteady and needed support, when walking at 6 and became wheelchair bound at 7 years. His speech was very slow and slurred but he had good hearing. [pediatricneurosciences.com]

Progressive loss of motor functions (movement and speech) start with clumsiness, stumbling and Parkinson-like symptoms; eventually, those affected become wheelchair-bound, are bedridden, and die prematurely. 1,2 Juvenile Batten disease is one of a group [beyondbatten.org]

People with this form of CLN8 disease have increasing difficulty walking and coordinating movements (ataxia), eventually becoming immobile. [icdlist.com]

Sleep abnormalities, such as settling problems, nocturnal awakenings, and nightmares, are reported in more than half of patients. The vast majority, if not all, patients develop seizures, starting at approximately 10 years of age. [dovepress.com]

Sleep abnormalities, such as settling problems, nocturnal awakenings, and nightmares, are reported in more than half of patients. The vast majority, if not all, patients develop seizures, starting at approximately 10 years of age. [dovepress.com]

Case 3 An 11-year-10-month-old Caucasian boy with normal perinatal and neurodevelopmental history was referred to us with 3-year history of progressive visual loss and visual hallucinations. [pediatricneurosciences.com]

Late infantile with CLN2 mutation manifests with onset between 2 and 4 years and symptoms of epilepsy, cognitive decline, ataxia, visual failure, and death in between 9 and 18 years. [pediatricneurosciences.com]

Clinical manifestations include seizures, progressive mental and motor deterioration, myoclonus, visual failure, dementia and premature death. [alliedacademies.org]

As with younger affected children, older individuals develop a decline in intellectual function, myoclonus, epilepsy, and vision loss. [icdlist.com]

As the disease progressed, he developed progressive vision loss, gait ataxia, action myoclonus, and epilepsy. Electroencephalogram revealed generalized sharp and slow wave discharges with background slowing. [annalsofian.org]

Eventually, usually during the late teens or twenties, additional abnormalities develop including sudden involuntary muscle contractions (myoclonus), muscle spasms (spasticity) that result in slow, stiff movements of the legs, weakness or paralysis of [rarediseases.org]

Involuntary movements (ataxia, myoclonus or spastic quadriparesis) occur. Myoclonus may be severe and refractory to medications. Visual loss occurs but is less obvious for the same reason as in CLN1. ERG is effective to evaluate visual acuity. [omicsonline.org]

The typical early signs are loss of muscle coordination (ataxia) and seizures along with progressive mental deterioration. This form progresses rapidly and ends in death between ages 8 and 12. [brainfoundation.org.au]

The early symptoms are followed by epilepsy and progressive physical and mental deterioration. Batten disease gene maps to chromosome 16p12.1. 56 chromosome haplotype defined by alleles at the d16s299 is shared by 73% of batten disease chromosomes. [icd10data.com]

deterioration and fits and is invariably fatal, usually in the early 20s. [eyewiki.aao.org]

Hirvasniemi A, Lang H, Lehesjoki AE, Leisti J (1994) Northern epilepsy syndrome: An inherited childhood onset epilepsy with associated mental deterioration. J Med Genet 31: 177-182. [omicsonline.org]

Patients experience a progressive and profound loss of neurons in the central nervous system that generally is associated with increasingly severe epileptic seizures, visual failure, ataxia, mental deterioration, and early death. [clinchem.aaccjnls.org]

Treatment Treatment Options: Treatment is primarily symptomatic for sleep disorders, seizures, psychoses, malnutrition, dystonia and spasticity. [disorders.eyes.arizona.edu]

Neurologic examination showed disorientation for time and space, impairment of short- and long-term memory, dysarthria, oromandibular dystonia, and naming deficit. A pendular nystagmus was present. [catalog.coriell.org]

Louis (296) Pharmacogenetics (280) Los Angeles (264) Houston (244) Hybrids (242) San Antonio (221) Arkansas (201) Dystonia (185) Chicago (180) UCLA Research Institute (175) Repository Linkage Families (164) CMD Specific (154) Venezuelan Huntington Disease [coriell.org]

At last follow-up at 11 years, he was wheelchair bound but could walk with support, had severe visual impairment and slow and slurred speech. He was totally dependent for all his daily activities. [pediatricneurosciences.com]

Soon after diagnosis, patients begin to have slight ataxic symptoms, and at adolescence extrapyramidal symptoms (rigidity, bradykinesia, slow steps with flexion in hips and knees) occur with increasing frequency. [dovepress.com]

Electroencephalogram (EEG) showed bilateral synchronous generalized epileptiform discharges. Electroretinogram (ERG) was absent and visual evoked potential (VEP) was normal. [pediatricneurosciences.com]