Spinal Muscular Atrophy (SMA)
To participate in this study, contact: Emily Oates
Research site: Institute for Neuroscience and Muscle Research (INMR), Sydney
| Disorder/Disease | Dominant SMA |
| Coordinator | Emily Oates |
| Project aim/s | Exome sequencing has recently enabled us to identify what a very likely new Dominant Congenital SMA (DCSMA) gene – in a family we have been working with and studying for quite some time. The clinical features in this family are lower limb predominant – and are summarised in the attached journal article. To further-confirm pathogenicity we are keen to find other families with mutations in this gene and we can offer research-based Sanger sequencing of this gene to any Australasian clinicians who have patients with similar features. |
| Methods | Exome sequencing |
| Patient inclusion/exclusion criteria | Patients with dominant SMA/Hereditary Motor Neuropathy |
| Patient information required for the study | |
| Supporting documentation that can be provided | |
| Closing date for patient registration | |
| Contact | Emily Oates |