The clinical service is multidisciplinary and patients undergo a comprehensive assessment in order to reach a specialised diagnosis and to provide advice that is based on the following:
- Full clinical assessment by the consultant expert in rare neuromuscular disorder
- Assessment by the physiotherapist expert in rare neuromuscular disorders
- Respiratory assessment with forced vital capacity (FVC) measurement, sitting and lying
- Advice about available clinical, physiotherapy and orthotic treatment and management
- Genetic counselling by a neuromuscular specialist nurse
- Advice about social care, independent living, benefits, etc by the regional care advisor
- Arrangement of biopsy and/or DNA analysis
- A summary clinic letter is issued by the leading consultant after each clinic appointment and sent to the patient as well as all medical professionals identified by them or others as important to their ongoing care
- A John Walton Centre contact sheet, containing names, email addresses and phone numbers is given to patients in order to maintain contact with members of the Centre’s team
Diagnosis is given in clinic or through a letter if appropriate. Detailed information is provided to the clinician that referred the patient regarding genetic counselling, complications, treatment and long term management.
Ongoing follow up is offered to all patients if requested, if no local service is available, in the case of extremely rare or novel conditions and for those patients for whom a genetic diagnosis has not been achieved. For these patients, genetic testing of novel genes is offered.