Premium
Prevalence of Huntington disease in New South Wales in 1996
Author(s) -
Mccusker Elizabeth A,
Casse Reynolds F,
Graham Shanthl J,
Wllllams David B,
Lazarus Ross
Publication year - 2000
Publication title -
medical journal of australia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.904
H-Index - 131
eISSN - 1326-5377
pISSN - 0025-729X
DOI - 10.5694/j.1326-5377.2000.tb125598.x
Subject(s) - chorea , population , family history , medicine , huntington's disease , incidence (geometry) , pediatrics , epidemiology , disease , demography , ataxia , census , psychiatry , sociology , optics , physics , environmental health
Objective To estimate the prevalence of Huntington disease (HD) in New South Wales on Australian Census Day (6 August) 1996. Design Survey of records of the Huntington Disease Service and major hospitals, and of neurologists, psychiatrists, clinical geneticists and genetic counsellors. Subjects and setting All patients in NSW who, on Census Day 1996, either had a definite diagnosis of HD (motor signs of chorea or ataxia and family history of HD or positive DNA test resullt) or would have had signs and later received a definite diagnosis (assessed 1 April 1997 to 1 July 1999). Main outcome measures Prevalence (HD patients per 100 000 population); patient characteristics; year and basis of diagnosis. Results 380 patients with definite HD were identified, giving a prevalence of HD in NSW in 1996 of 6.29 per 100 000 population (95% Cl, 5.68‐6.96). A third of HD patients were aged 60 years or older. Diagnosis was confirmed by DNA testing for 171 patients (45%), including 30 (8%) with no recorded family history. Average numbers of new diagnoses per year were 11.8 (1984‐1988), 21.8 (1989‐1993) and 28.6 (1994‐1998). Estimated number of people with a 50% risk of inheriting the HD mutation was 25.2 per 100 000 population. Estimated incidence of HD in 1996 was 0.65 per 100 000 population. Conclusions Prevalence of HD in NSW is similar to estimated prevalence in other Australian and Western populations. Increasing numbers of cases are being diagnosed, and the 18 chronic care beds currently designated for HD patients in NSW are unlikely to be sufficient.