Patients who come to one of our clinics will be seen by an expert multidisciplinary team led by Professor V. Straub and Dr M. Guglieri.
The comprehensive clinical assessment is generally structured as follows:
- Full clinical assessment by a consultant expert in rare neuromuscular disorders
- Muscle assessment by a physiotherapist expert in rare neuromuscular disorders
- Respiratory assessment with forced vital capacity (FVC) measurement in sitting and lying positions
- Advice about available clinical, physiotherapy and orthotic treatment and management
- Genetic counselling with a neuromuscular specialist nurse
- Advice about social care, independent living, benefits etc by a 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 important to their ongoing care
- A John Walton Muscular Dystrophy Research Centre contact sheet is given to the patient with relevant names, email addresses and phone numbers
Diagnosis will be given in clinic or through a letter as appropriate. Detailed information is offered to the referring clinician regarding genetic counselling, complications, treatment and long term management.
Ongoing follow up is offered to all patients if required and in particular to those patients for whom a genetic diagnosis has not been achieved. These patients will be offered genetic testing of novel genes.