Table 2.
Multidisciplinary Domains | Tools / Assessments | Interventions |
---|---|---|
Diagnostics (Neuromuscular medicine specialist, geneticist, pathologist) | Biomarkers (e.g. Creatine Kinase) Electrodiagnostics Molecular Genetics Muscle Biopsy |
Genetic Counseling Family Support |
Medication Management (Neuromuscular medicine specialist, neurodevelopmental pediatrician, physiatrist) | Clinical Evaluation Strength Function Range of Motion |
Considerations Age of patient Stage of disease Risk factors for side-effects Available medications Choice of regimen Side-effect monitoring and and prophylaxis Dose alteration |
Rehabilitation Management | ROM Strength Posture Function Alignment Gait |
Stretching Positioning Splinting Orthoses Submaximum exercise / activity Seating Standing devices Adaptive equipment Assistive technology Strollers/scooters Manual / power wheelchairs |
Orthopedic Management | Assessment of ROM Spinal assessment Spinal radiograph Bone age (left wrist and hand radiograph) Bone densitometry |
Tendon surgery Osteotomies / arthrodesis Posterior spinal fusion |
GI, speech/ swallowing, nutrition management | Upper and lower GI investigations Anthropometry |
Diet control and supplementation Gastrostomy Pharmacological management of gastric reflux and constipation |
Pulmonary Management | Spirometry Static Airway pressures (MIP/MEP) Peak cough Flow Pulse oximetry Capnography / End tidal CO2 ABG Sleep Studies / Polysomnography |
Volume recruitment Noninvasive Ventilation (via mask and nasal interfaces) Invasive Ventilation (via tracheostomy) Airway Clearance (Mechanical insufflator/Exsufflator, Theravest) Immunizations |
Cardiac management | ECG Echo Holter Cardiac MRI |
ACE inhibitors Angiotension Receptor Blockers β blockers Diuretcs Inotropes Other heart failure medication Antiarrhythmics |
Psychosocial management | Coping Neurocognitive Speech and language Autism Social work |
Psychotherapy Pharmacological interventions Social support Educational support Palliative / Supportive care |