- Brown-Vialetto-Van Laere syndrome
- Spinal muscular atrophy syndromes
- Fazio-Londe syndrome
- Motor neuronopathy OR bulbar palsy with or without respiratory insufficiency due to diaphragmatic paralysis +/-sensory neuropathy, optic atrophy and sensorineural hearing loss
- Congenital or presentation in early childhood most commonly (presentation can occur in adult life, but is rare)
- EMG consistent with motor neuron involvement
Prior genetic testing guidance
Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition.
Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing.
PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.
Prior genetic testing genes
Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice:
Testing of SMN1 if a clinical diagnosis of spinal muscular atrophy is being considered
These requirements will be kept under continual review during the main programme and may be subject to change.« Back to Disease List