Conflicts Between Non-Directive Counseling and Unbiased Patient Care: the Influence of Medical Students’ Personal Beliefs on Proposed Huntington’s Disease Genetic Testing Recommendations

2016 ◽  
Vol 26 (4) ◽  
pp. 639-646 ◽  
Author(s):  
Shankar N. Mundluru ◽  
Kate E. Therkelsen ◽  
Courtney P. Verscaj ◽  
Shoumita Dasgupta
2014 ◽  
Vol 15 (1) ◽  
pp. 80-84 ◽  
Author(s):  
David Craufurd ◽  
Rhona MacLeod ◽  
Marina Frontali ◽  
Oliver Quarrell ◽  
Emilia K Bijlsma ◽  
...  

Author(s):  
Robertus M. A. de Bie ◽  
Susanne E. M. Ten Holter

Chorea manifests as involuntary, often contnuous, unpredictable, and involuntary dance-like movements. Patients with chorea are often unaware that they have involuntary movements. Others may try to incorporate the movement into a semipurposeful action (parakinesia). Chorea is usually worse with mental activity or emotion. Physical activity may also exacerbate chorea. The presence of “motor impersistence” is typical of chorea. Sometimes patients can also make unintentional sounds referred to as hyperkinetic dysarthria. Chorea disappears during sleep. Ballism is considered a type of chorea with a more proximal distribution and larger movements. Athetosis is a term formally used for chorea with slow writing movements in the distal limbs, but it is not considered a specific entity of chorea anymore. The most important genetic cause of chorea in adulthood is Huntington’s disease, and genetic testing should be considered as a first step in all patients with adult-onset chorea if no secondary cause is found.


1998 ◽  
Vol 13 (4) ◽  
pp. 726-730 ◽  
Author(s):  
E. Silber ◽  
J. Kromberg ◽  
J. A. Temlett ◽  
A. Krause ◽  
D. Saffer

1997 ◽  
Vol 16 (1) ◽  
pp. 36-50 ◽  
Author(s):  
Ann-Marie Codori ◽  
Phillip R. Slavney ◽  
Candace Young ◽  
Diana L. Miglioretti ◽  
Jason Brandt

2021 ◽  
Vol 5 (1) ◽  
Author(s):  
Joep P.M. Geraedts ◽  

Huntington’s disease (HD) is an autosomal dominant disease that immensely impacts the affected families. However, the transmission of the disease from carriers to their offspring could be prevented. Prenatal diagnosis (PND) and preimplantation genetic diagnosis (PGD) are the only two available reproductive options for the carriers at risk to have disease-free children. PND for HD could be done through two kinds of genetic testing: direct and indirect. The same approaches are available for preimplantation genetic testing. In addition, a third alternative is nondisclosure testing, which is only available in the case of PGD. The pros and cons of different approaches are discussed. However, only a relatively few at-risk parents opt for PND and PGD. Furthermore, compared to PND, PGD is even more seldom opted for as a reproductive option.


2020 ◽  
Vol 28 (9) ◽  
pp. 1205-1209
Author(s):  
Mayke Oosterloo ◽  
Emilia K. Bijlsma ◽  
Corien C. Verschuuren-Bemelmans ◽  
Meyke I. Schouten ◽  
Christine de Die-Smulders ◽  
...  

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