Neuro genética

Question 1

How to request Huntington Disease genetic test?

Answer 1

Number of CAG repetitions at the HTT gene

Question 2

Meaning less then 26 CAG repetitions in HTT

Answer 2

No Huntington Disease

Question 3

Meaning 27-35 CAG repetitions in HTT

Answer 3

Portable, but won’t have Huntington Disease

Question 4

Meaning 36-39 CAG repetitions in HTT

Answer 4

Chance of having symptoms of Huntington Disease

Question 5

Meaning more then 40 CAG repetitions in HTT

Answer 5

High chance of having symptoms of Huntington Disease

Question 6

Gene Ataxia de Friedreich

Answer 6

FXN

Question 7

Ataxia com deficiência de vitamina E (AVED) gene

Answer 7

TTPA

Question 8

Doença de Refsum acumula qual ácido?

Answer 8

Fitânico

Question 9

Doença de Refsum diminui qual ácido

Answer 9

Pristânico

Question 10

Doença de Refsum sintomas

Answer 10

Lesões nos nervos e na retina
Perda da audição
Perda do olfato
Movimentos espasmódicos
Alterações ósseas e cutâneas
Neuropatia periférica progressiva
Retinite pigmentosa
Cardiomiopatia
Defeitos de condução
Ictiose