Family studies revealed an intermediate radiosensitivity from two patients, their asymptomatic parents, and a sister. The lack of chromosome breakage strongly separates ataxia-oculomotor apraxia from ataxia telangiectasia. [ncbi.nlm.nih.gov]

Genetic counseling is recommended as each sib of an affected individual has 25% chance of being affected, 50% chance of being an asymptomatic carrier, and 25% chance of being neither affected nor a carrier. [orpha.net]

Each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. [lacaf.org]

He had a wide-based, unsteady gait and was unable to stand with feet together for more than a few seconds. The rest of his neurological examination was unremarkable. [annalsofian.org]

Intracellular Digestion Cell Nucleus Cell Division Photosynthesis Cell Respiration Protein Synthesis Microbiology Bacteria Protists Fungi Viruses Zoology Life Kingdoms Poriferans Cnidarians Flatworms Roundworms Annelids Arthropods Molluscs Echinoderms Chordates Fish [biology-questions-and-answers.com]

In addition to oculomotor abnormalities, fundoscopy showed macular and retinal lesions in most patients, and optic atrophy in two. These features of AOA1 had not been described previously. [academic.oup.com]

He presented a history of foot deformities and staggering gait with frequent fallings at age 4 years. The disease was slowly progressive and he was unable to walk unaided at age 10 years. [academic.oup.com]

This first volume covers the visual sensory system, the autonomic nervous system, the ocular motor system, the eyelid, facial pain and headache, and nonorganic disease. Volume 2 covers tumors, the phacomatoses, and vascular disease. [books.google.de]

Format Definition An autosomal recessive syndrome characterized by early-onset cerebellar ataxia, oculomotor apraxia, early areflexia and late peripheral neuropathy. [uniprot.org]

Ataxia, areflexia, and ocular muscle paralyses are also featured in the Fisher syndrome. [pediatricneurologybriefs.com]

Additional features include square wave jerks, saccadic pursuit and gaze-evoked nystagmus, areflexia followed by severe peripheral neuropathy. Variable intellectual disability is observed. [orpha.net]

Affiliated tissues include eye, and related phenotypes are nystagmus and dysarthria UniProtKB/Swiss-Prot : 76 Ataxia-oculomotor apraxia 3: An autosomal recessive disease characterized by cerebellar ataxia, oculomotor apraxia, areflexia and peripheral [malacards.org]

The disease is characterized by ataxia, dysmetria, peripheral neuropathy, areflexia, cerebellar atrophy, oculomotor apraxia and raised alpha-fetoprotein levels. [cags.org.ae]

HP:0000514 12 distal sensory impairment 33 HP:0002936 Symptoms via clinical synopsis from OMIM: 58 Head And Neck Eyes: nystagmus oculomotor apraxia slow saccades impaired ocular movements head-eye lag Neurologic Peripheral Nervous System: areflexia hyporeflexia [malacards.org]

Sensory loss, hyporeflexia: AR ataxias; SPN and SG (“sensory ataxia”); GA; MF; AVED; NS. [practicalneurology.com]

All affected individuals have generalized areflexia followed by a peripheral neuropathy and quadriplegia with loss of ambulation about seven to ten years after onset. Hands and feet are short and atrophic. Chorea and upper-limb dystonia are common. [lacaf.org]

A single patient showed pathological perseverations. All patients had low frontal scores, and most patients had disturbed WCST with decreased ability to form concepts and reduced verbal fluency. [academic.oup.com]