ataxia with oculomotor apraxia type 2

An autosomal recessive condition characterised by onset between age 3 and 30, cerebellar atrophy, axonal sensorimotor neuropathy, oculomotor apraxia and elevated serum alpha-fetoprotein.

DiffDx
Ataxia-telangiectasia, ataxia with oculomotor apraxia type 1.
Management
Supportive—e.g., physical therapy for disabilities due to peripheral neuropathy, assistive devices as needed, educational support.

Molecular pathology
Defect in SETX on chromosome 9q34, which encodes senataxin, a protein with putative helicase activity required for the processing of diverse RNA species, including transfer RNA, ribosomal RNA, small nuclear RNA and small nucleolar RNA.

单词	ataxia with oculomotor apraxia type 2
释义	ataxia with oculomotor apraxia type 2 ataxia with oculomotor apraxia type 2 An autosomal recessive condition characterised by onset between age 3 and 30, cerebellar atrophy, axonal sensorimotor neuropathy, oculomotor apraxia and elevated serum alpha-fetoprotein. DiffDx Ataxia-telangiectasia, ataxia with oculomotor apraxia type 1. Management Supportive—e.g., physical therapy for disabilities due to peripheral neuropathy, assistive devices as needed, educational support. Molecular pathology Defect in SETX on chromosome 9q34, which encodes senataxin, a protein with putative helicase activity required for the processing of diverse RNA species, including transfer RNA, ribosomal RNA, small nuclear RNA and small nucleolar RNA.
随便看	porty port yacht charters portyngal port youth coalition port youth theatre workshop port étienne port-étienne portúgal portûnga poruks, janis porulosida porumbescu, ciprian por un nuevo hombre americano porus porus acusticus externus porus acusticus, internal porus acusticus internus porus crotaphytico-buccinatorius porus crotaphyticobuccinatorius porus gustatorius porus lactiferus porus opticus porus sudoriferus porv por vida academy