This service provides a diagnostic, advisory and clinical service for patients with four groups of very rare inherited neuromuscular disorders. These conditions are all inherited, and the definitive diagnosis for a patient is made by identifying the primary gene defect. Each disease group involves multiple genes, and the decision as to which gene to search first for DNA mutations is arrived at by using a disease-specific battery of techniques. These may include detailed clinical assessments, specialised neurophysiological tests, and immunological analyses on tissue biopsies.
The Specialised Services are provided as follows:
Below is a list of further information of the service featured on this page. If you require any further information please contact us.
Service Specification and Standards
- Rare Neuromuscular Service
