Disease Information for Ataxia/Oculomotor apraxia syndrome (9p13.3)

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Clinical Manifestations
Signs & Symptoms
Facial grimacing
Abnormal movements/involuntary
Ataxia
Athetosis
Cerebellar signs
Chorea signs
Choreoathetoid movement
Choreoathetosis
Clumsiness/poor coordination
Gait disturbance/abnormality
Mental Slowing Deteriation
Neurological symptoms/signs
Oculomotor apraxia
Sensory Ataxia
Staggering Gait
Falling
Difficulty Focusing Eyes
Diplopia Double vision
Double Image Vision Confirmed
Clinical Presentation & Variations
Presentation/Progressive Ophthalmoplegia
Disease Progression
Course/Progressive
Onset 3 to 12 years old
Onset 4 years
Onset/Childhood
Demographics & Risk Factors
Family History
Family history/Ataxia
Family history/Childhood CNS degenerating disease/death
Family history/Gait disorders
Family history/Nerve disease
Laboratory Tests
Abnormal Lab Findings - Decreased
Albumin, serum (Lab)
Diagnostic Test Results
CT Scan
CT Scan/Head Brain/cerebellar atrophy
Associated Diseases & Rule outs
Rule Outs
Ataxia-telangiectasia
Associated Disease & Complications
Cerebellar ataxia
Developmental neurologic degeneration/child
Hypercholesterolemia
Hypoalbuminemia Hypoproteinemia
Neurodevelopmental disorders
Ophthalmoplegia
Ophthalmoplegia/progressive/ext/chronic
Peripheral neuropathy
Polyneuritis
Ataxia Disorder
Polyneuropathy
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
CLASS/Brain/CNS disorder (ex)
CLASS/Cerebellar disorder (ex)
CLASS/Neurologic (category)
Pathophysiology
Pathophysiology/Neurologic degenerative disorder (ex)
Pathophysiology/Maternal Chromosome mutation
Process
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Eponymic/Esoteric/Not yet integrated into database
PROCESS/Genetic disorder/Spontaneous mutations/sporadic
PROCESS/Hereditary developmental disorder (ex)
PROCESS/Hereditary Multiple anomalies syndrome [EX]
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Esoteric disease (example)
PROCESS/INCIDENCE/Extremely rare disease
PROCESS/Developmental degenerative neurological disorder (ex)
Treatment
Other Treatments
TX/Constitutional/No definitive treatment
Definition

gene locus 9p13_3;ATAXIA-OCULOMOTOR APRAXIA SYNDROME [9p13_3]; an autosomal recessive syndrome that closely resembled ataxia-telangiectasia but differs in important respects; with a neurologic syndrome of oculomotor apraxia, ataxia, and choreoathetosis who had none of the extraneurologic features of AT; Although the neurologic signs were indistinguishable from those of AT, the onset tended to be later and none of the patients had a tendency to frequent infections; further, immunoglobulins, alpha-fetoprotein, T- and B-lymphocyte markers, and chromosomes 7 and 14 were normal; patients with autosomal recessive cerebellar ataxia, ocular apraxia, and peripheral neuropathy with a mean age of onset of 4_7 years. There was no associated mental retardation, telangiectasia, or immunodeficiency; Possibly may have exhibited supranuclear pseudo-ophthalmoplegia, which may be due to lesions in the nucleus pontis centralis caudalis of the paramedian pontine reticular formation;Clinical features include age of onset from 3 to 12 years, cerebellar ataxia, peripheral neuropathy, oculomotor apraxia and external ophthalmoplegia, choreiform movements of the limbs, facial grimacing, mental deterioration, cerebellar atrophy, hypoalbuminemia, and hypercholesterolemia----------------[OMIM Nov 2004]----------------

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External Links Related to Ataxia/Oculomotor apraxia syndrome (9p13.3)
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PubMed (National Library of Medicine)
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Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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