Organisations and Groups
Genetic services and information
Patients should contact their GP/Specialist or a genetic service to discuss genetic testing than contacting a lab or pathology service.
The service accepts referrals for adult and paediatric patients with a personal/family history of Familial neurological and muscle disorders.
- This may include individuals with a personal/family history of myotonic dystrophy, muscular dystrophy, ataxia, leukodystrophy, spinal muscular atrophy, dystonia, periodic paralysis, congenital myasthenic syndromes, hereditary neuropathy, and early onset dementia/parkinsonism.
The Clinical Genetics service at The Children’s Hospital at Westmead provides consultation and counselling regarding diagnosis and therapy for children and adults with:
- inheritable disorders
- chromosomal abnormalities
- dysmorphic syndromes
- non-syndromic congenital anomalies and other disorders.
Diagnosis, counselling and support of individuals with, or at risk of, hereditary disorders. Please contact them to confirm if they do genetic testing for Dystonia.
Testing for THAP1 (also called “dystonia 6, torsion (autosomal dominant)”, DYT6 ).
Neuromuscular gene tests – Australasia Neurosmuscular Network
The Australasia Neurosmuscular Network’s role is to ensure quality diagnostic methods, clinical management and equal access to clinical trials or new therapies, for all individuals in Australia and New Zealand affected by neuromuscular disorders.
Dystonia Genetic testing lab (WA) – Neurogenetics
The institute researches condtions such as Neurological conditions and genetic testing
Part of the Garvan Institute of Medical Research and website provides information information about Whole Genome Sequencing (WGS)
Funded by the US National Human Genome Research Institute (NHGRI) and approves a gene name and symbol (short-form abbreviation).
MyGene2 is a global portal through which families with rare genetic conditions who are interested in sharing their health and genetic information can connect with other families, clinicians, and researchers. The genetic cause of most rare conditions is unknown and as a result, most families who undergo exome sequencing or whole genome sequencing do not receive a diagnosis. By sharing information through MyGene2, a family can help and even participate in the discovery of new genetic conditions and the genes underlying these conditions.
The Garvan Institute of Medical Research assisted with the website and helps families living with rare genetic disease to find others with mutations in the same gene. The aim is to support the 300+ million individuals worldwide living with rare disease to uncover a diagnosis.
Facilitates contact between families/individuals affected by the same, or similar condition, and/or provide information about relevant support groups both nationally and internationally. Provides services and support for individuals. GA has an extensive rare disease and genetic database.
Deep Brain Stimulation
Medicines/ medical tests/health information
Question builder – Create a list of questions to ask your doctor using the question builder. Print the list to take to your appointment.
Top tips for safe health care – booklet to help consumers, their families, carers and other support people get the most out of their health care. You can use the information in the booklet when you talk to your doctor or other health professionals.
Health On the Net Foundation – Search for reliable information
After Hours Medical Care
Home Support and Equipment
It has come to our attention that community members are not aware of the NDIS principles, their rights or the NDIS responsibilities providing home care support. Please click links for further info.
Federal Register of Legislation – National Disability Insurance Scheme Act 2013
Social and Community Health
Your Healthcare Rights
Welfare Rights and Support
Some of the matters that we provide legal assistance and referrals for are:
- end of life legal planning including medical and legal powers of attorney, wills and superannuation
- financial-related legal issues, such as Centrelink debts and outstanding fines
- housing and property
- criminal charges
- family law
- family violence
- immigration problems