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CASE REPORT |
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| Year : 1995 | Volume
: 49
| Issue : 4 | Page : 95-97 |
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Huntington's disease: A case report
GA Kurhade, BM Puranik
Department of Physiology, Govt. Medical College, Nagpur, India
| Date of Submission | 07-Mar-1994 |
| Date of Web Publication | 23-Nov-2009 |
Correspondence Address:
G A Kurhade
Department of Physiology, Govt. Medical College, Nagpur
India
How to cite this article:
Kurhade G A, Puranik B M. Huntington's disease: A case report. Indian J Med Sci 1995;49:95-7 |
Huntington's disease (HD) is a rare, dominantly inherited, untreatable, progressive and eventually fatal disease. The incidence is 1 in 2,500. [1] Symptoms begin in 3rd or 4th decade. The relatives of the victim have to cope with much of the burden of mental and physical detarioration of patient while accepting the fact that they themselves & their children are now at a greater risk as HD is inherited as autosomal dominant trait with full penetrance which never escapes a generation. The risk of developing HD in an offspring of an affected parent is almost 50%. One such case with pregnancy reached term is reported. It merits attention because of rarity of HD& lack of reports on it from Central India. A careful study of family history is indispensable in the assessment& understanding of HD& it enables the prediction to be made for the foetus during pregnancy in 90% of cases. The case report also emphasises the need of detecting DNA polymorphism by chorion biopsy or amniocentesis to avoid transmission of HD gene to further generations inspite of ethical issues which may be raised.
| ¤ Case Report | |  |
A 35 year old woman, IlIrd gravida with history of amenorrhoea of 9 months and labour pains since 4 hours was admitted in private hospital. Her pulse was 80 per min, blood pressure 110/80 mm Hg she had no oedema. Per abdomen examination showed height of uterus to be 36 weeks, tense, tender with moderate uterine contractions. Foetal heart was recorded to be normal. She had characteristic involuntary choreic movements. The diagnosis of HD was established due to presence of chorea and history of progressive dementia and emotional disturbance supported by a positive family history. [1] Her paternal grandmother suffered and died of the same symptoms. The grandmother had 1 daughter and 4 sons of which the daugher and one son have no symptoms whereas 3 sons suffered. In the father of the patient onset was at the age of 38 years and death occured 12 years after onset. In the second son onset was at the age of 35 years and he committed suicide after suffering for 10 years. The third son is 40 years of age and still alive but with same symptoms. The patient has 3 brothers and 1 sister all less than 30 years of age without any symptoms. The onset of symptoms in the patient was at the age of 30 years. She has 3 daughters 17 years and 15 years and a son 13 years old. She delivered normally a healthy male child. The postpartal period was uneventful. We succeeded in covincing her husband to undergo vasectomy.
| ¤ Discussion | | |
As the case denotes; normal pregnancy and delivery is possible in a patient suffering from HD. As the off-springs are at a 50% risk of inheriting the disease; prediction of this risk is essential. The identification of a deoxy ribonucleic acid (DNA) sequence G-8 on chromosome 4 showed close genetic linkage to HD and is a ra yof hope in this direction. [2] Over the years availability of new DNA markers more tightly linked to the HD locus than the G-8 (D 4 S-10) probes has improved predictive accuracy for both presymptomatic and prenatal exclusion testing. [3] Gilliam and Wasmuth discovered D 4 S43 and D 4 S 95 loci respectively. [4],[5] Prenatal exclusion testing can be an ideal option for high risk individuals wishing to procreate as HD trait shows vertical transmission through successive generations. Non availability of such predictive tests in our country and the added economic restrain were our limitations. Coming next in the order of preferance was a detailed study of the family structure which allows some prediction as to the outcome of pregnancy or for offsprings already born. [6] Hence only when a specific test for the HD gene itself is available it may be feasible to make a prediction for an isolated subject without studying the family unit. Meanwhile families are likely to benefit from prediction along family structures.
| ¤ Summary | | |
Presymptomatic and prenatal exclusion testing by genetic counselling definitively predicts the risk of HD. But the family structure will remain crucial for prediction as the identification of HD gene in Central India seems to be some way away.[Figure 1]
| ¤ References | | |
| 1. | Cecil Textbook of Medicine edited by Wyngaarden JB Smith LH; Jr. 18th Edition, Philadelphia, WB Saunders and company 1988;2147.  |
| 2. | Gusella JF, Wexler NS, Conneally PM, et al. A polymorphic DNA marker genetically linked to Huntington's disease. Nature 1983;306:244-8 quoted by 3. |
| 3. | Brock DJH, Curtis A, Barron L, et al. Predictive testing for HD with linked DNA markers. Lancet 1989;2:463-66. |
| 4. | Gilliam TC, Bucan M, MacDonald ME, et al. A DNA segment encoding two genes very tightly linked to Huntington's disease. Science 1987;238:950-52 quoted by 3. |
| 5. | Wasmuth JJ, Hewitt J, Smith B. et al. A highly polymorphic locus very tightly linked to the Huntington's disease gene. Nature 1988;323:734-36 quoted by 3. |
| 6. | Harper PS, Sarfarazi M. Genetic prediction and family structure in HG. BMJ (Clin Res) 1985;290:1929-31. |
[Figure 1]
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