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