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Ataxic Disorders- Part 3
See all quizzes of Ataxic Disorders at here:
1 Ataxia Telangiectasia is also known as ?
A. Louis-Bar syndrome
B. Nijmegen breakage syndrome (NBS1)
C. Lou Gehrig’s disease
D. Pott’s disease
2 Gene responsible for Ataxia Telangiectasia is found on which
chromosome ?
A. Chromosome 11
B. Chromosome 12
C. Chromosome 13
D. Chromosome 14
3 Full name of ATM – the gene for Ataxia Telangiectasia is ?
A. Ataxia-telangiectasia mutated
B. Ataxia-telangiectasia manifested
C. Ataxia-telangiectasia morphed
D. Ataxia-telangiectasia magnified
4 Mutation of which of the following gene causes a variant of AT
(AT-like disease) ?
A. SBDS
B. MRE11
C. CHD7
D. STAT5b
5 AT causes which of the following ?
A. Low IgA
B. IgG2 deficiency
C. Low antibody production
D. All of the above
6 Which of the following is false about Ataxia Telangiectasia ?
A. Present in first decade of life
B. Progressive telangiectatic lesions with deficits in cerebellar
function & nystagmus
C. High incidence of recurrent pulmonary infections and
neoplasms of lymphatic and reticuloendothelial system
D. None of the above
7 In Ataxia Telangiectasia (AT), the most consistent defect of the
lymphoid system is ?
A. Poorly developed or absent thymus gland
B. Generalised lymphadenopathy
C. Splenomegaly
D. Lymphedema
8 Telangiectasia in Ataxia Telangiectasia usually occur on ?
A. Bulbar conjunctiva
B. Nail bed
C. Intracranial
D. All of the above
9 Which of the following laboratory tests is useful in the diagnosis
of Ataxia Telangiectasia ?
A. Cryofibrinogen
B. Ceruloplasmin level in blood
C. Alpha-fetoprotein level in blood
D. Apolipoprotein A-1
10 Which of the following statements about Ataxia-telangiectasia is
false ?
A. Affected child has normal intelligence
B. Hypersensitivity to ionizing radiation
C. Predisposition to malignancy
D. None of the above
11 Hereditary forms of mitochondrial cytopathies include ?
A. Kearns-Sayre syndrome
B. Myoclonus epilepsy with ragged red fibers (MERRF)
C. Mitochondrial encephalopathy with lactic acidosis and strokelike
episodes (MELAS)
D. All of the above