Arthrogryposis multiplex congenita in Western Australia

Objective: Determination of the prevalence of arthrogryposis multiplex cong enita in Western Australia as well as the causes of the condition. Overseas reports varied considerably and no such survey had been conducted in Weste rn Australia. Methodology: Case names were obtained from various registers and records as well as from private practitioners covering the 14 years birth cohort betw een 1980 and 1993. The records, and where possible the patients, were seen by one of the authors. Diagnosis was further established through relevant i nvestigation where possible. Results: Thirty cases were identified, giving a birth prevalence of approxi mate to 1 in 12 000. In nine cases there were significant abnormalities of the central nervous system, in seven cases anterior horn cell and/or periph eral nervous involvement was the cause and in three there was primary muscl e disease. The remaining 11 had various syndromes for which no definite neu ropathological lesions could be demonstrated, but most of these had syndrom es such as distal arthrogryposis or amyoplasia. Mortality was 37%. Talipes occurred in 23 of 30 cases. Early intervention and, in more severe cases, r adical surgical intervention was the management adopted in most cases. Conclusion: The birth prevalence of arthrogryposis in Western Australia is somewhat less than that reported in Canada and Finland but somewhat greater than the Edinburgh figures, which appear to be the extremes quoted in the literature. Prognosis is worse in cases with serious central nervous system involvement and/or chest involvement, and better in cases of localised art hrogryposis (e.g. distal), as well as in the specific syndrome of amyoplasi a as described by Hall.