Spinocerebellar Ataxia

Spinocerebellar Ataxia

 

Spinocerebellar Ataxias belong to a group genetically inherited neurological disorder which leads to progressive loss of coordination, falls and eventual wheelchair dependence. There are more than 40 genetic SCA types reported worldwide. There is no official data on SCA in Malaysia but It is estimated that 1 in 100,000 Malaysian patients suffer from SCA in Malaysia. SCA 3 is the commonest SCA in Malaysia, followed by SCA 2 and SCA 1.

SCA affects patients as early as in their 20s, with mean onset age being 30 years. It is inherited dominantly, which means that each affected individual have a 50% chance of transmitting the disease to their child. The disease only manifests in adult age, hence the child may not know if he/or she is affected until he/she becomes symptomatic. The disease robs patients of their physical independence with majority becoming wheelchair dependent within 5 years. The speech becomes more slurred and difficult to understand.  Currently, there is no treatment that can cure or halt the disease progression of spinocerebellar ataxias. Due to lack of genetic testing facilities and cost, many patients are left undiagnosed and unaware of their diagnosis till late. Earlier diagnosis allows for genetic counselling and earlier referral to rehabilitation experts for assessment. Patients with SCA in Malaysia are mostly managed suboptimally due to lack of availability of resources and awareness of treatment options.

Genetic testing for spinocerebellar ataxia types 1,2,3, 6 and 7 in Malaysia, is currently offered by two institutions, the Molecular Laboratory, Department of Medicine, UKM Medical Center and the Molecular and Genetics Diagnostics Unit, Institute for Medical Research, Kuala Lumpur.

In 2019, the Neurology Unit, Hospital Canselor Tuanku Muhriz initiated an Expert Group for Spinocerebellar Ataxia in Malaysia, chaired by Prof Datin Dr Norlinah Mohamed Ibrahim. The multidisciplinary team included neurologists, nurses, allied health professionals, patient organization representatives, geneticists and rehabilitative physicians. The first Expert Group meeting was held on the 17th October 2019 in UKM Medical Center, with aims to improve and facilitate the needs of ataxia patients in Malaysia at all levels and to develop a care model for SCA in Malaysian patients.

 

Prepared by
Prof Datin Dr Norlinah Mohamed Ibrahim
Consultant Neurolgist (Movement Disorders), UKM Medical Center

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