A typical visit with a TLC will generally include a 1 – 2 day clinic of undiagnosed congenital muscle disease patients, followed by an informative ½ day to full day conference for clinicians, practitioners, patients, and families. Undiagnosed visits take 30-40 minutes while diagnosed patients take 15-20 minutes.
During the clinic visit, core CMD CRFs are completed on each patient. To facilitate clinic logistics and depending on the size of the TLC team, 1-3 rooms are needed.
- One room: Review of demographics, history, consents obtained (NNDCS, local muscle biopsy release and blood draw), CMDIR registration and CMD BioBank blood draw
- One room: Physical exam
- Possible room for PT evaluation
To prepare for a TLC visit, it is important for the local neuromuscular team to maintain close communication with the TLC team to ensure the following action items are accomplished in a timely fashion.
- Credentialing of Dr. Carsten Bonnemann in state of visit (US only)
- Submission of the NNDCS IRB protocol to local IRB
- Submission of CMD BioBank, NIGMS Respository, to local IRB (if desired)
- Development of CMD Conference agenda
- Selection of undiagnosed congenital muscle disease patients for Clinic
Each patient examined in clinic will require a brief written synopsis of his or her medical history to be presented by local team to TLC team during clinic. This synopsis includes:
- Birth history
- Family history (contributory)
- Rate of disease progression (if known)
- Diagnostic testing performed to date (EMG, muscle or skin biopsy, genetic testing, CK, brain MRI)
- Echocardiogram report (if performed)
- Pulmonary function test report (FVC and % predicted FVC) and sleep study (if performed)
To facilitate review of muscle biopsy and imaging studies, a microscope and slides can be made available in clinic or as a separate trip to pathology. If images can be projected, this will facilitate educational environment for entire team. Images from brain CT scans or MRIs can be pulled up during clinic visit as either digital images or hard copies.
TLC Follow Up
Each patient seen in a CMD TLC will be entered into a TLC follow up log with follow up plans for diagnosis and medical management entered into log during clinic visit based upon clinic discussions. A conference call will be scheduled 2-3 months after the clinic visit between TLC and local team to review recommendations, arrange for diagnostic testing and provide follow up on additional tests performed. Local team can then communicate information conveyed to families.