Complexities in Genetic Counseling and Testing of Huntington's Disease: A Perspective from India.
Neurol India
; 70(5): 2141-2144, 2022.
Article
em En
| MEDLINE
| ID: mdl-36352624
ABSTRACT
Background:
Huntington's Disease (HD) is an autosomal dominant, progressive neuropsychiatric illness caused by CAG repeat expansion. The high penetrance of the mutation and limited treatment options make it challenging for patients and caretakers. Proper counseling enables families to cope better and make informed life choices.Objective:
To explore some complex issues in genetic counseling and testing (GCAT) in HD. Materials andMethods:
Vignettes of patients who underwent genetic testing along with pre and post-test counseling at our GCAT clinic.Results:
Case 1 Diagnosis of juvenile HD meant that the healthy parent was an obligate carrier of the mutation. Case 2 Consanguinity resulted in a dense prevalence of HD and >50% risk for the progeny. Case 3 Predictive testing in youth with healthy parents but affected uncles and aunts revealed a HD expansion.Conclusions:
HD can present with complex inheritance patterns and proper counseling is necessary for better outcomes.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Doença de Huntington
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
/
Risk_factors_studies
Limite:
Adolescent
/
Humans
País/Região como assunto:
Asia
Idioma:
En
Revista:
Neurol India
Ano de publicação:
2022
Tipo de documento:
Article