Jenny Downs


Physiotherapist, Medical Science Researcher

Job Title Senior Research Fellow
Organisation Name Telethon Kids Institute
Areas of Special Interest

Rett syndrome
CDKL5 disorder
MECP2 duplication syndrome
Duchenne muscular dystrophy
Early onset scoliosis

Adults or Children Adults and Children
Telehealth consults Not available
Transitional Planning – Paediatric to adult services null

Phone (08) 9489 7774

Jenny Downs

is prepared to be contacted by other Health Professionals


Additional Clinical Information

Clinical Information
Care pathways for people with neurodegenerative and neuromuscular conditions (NSW Agency for Clinical Innovation)
Best Practice Guidelines on molecular diagnostics in Duchenne/Becker muscular dystrophies
Evaluating the Extent of Clinical Uncertainty Among Treatment Options for Patients with Early-Onset Scoliosis
Guidelines for Management of Scoliosis in Rett Syndrome Patients Based on Expert Consensus and Clinical Evidence
Information for Patients
Guide to Respiratory Care for Neuromuscular Disorders
Muscular Dystrophy Foundation fact sheets
About Scoliosis

European Reference Networks (ERNs)

European Reference Networks (ERNs)
ERNs are networks for clinicians and researchers to share expertise, knowledge and resources, this information may be of use to Australian health professionals and researchers.

For links to online portals that provide information on rare diseases including definitions, causes, treatments, and publications for patients, families and professionals in the field. Please see our conditions page.