Management of Myotonic Dystrophy

Initial Diagnosis and Assessment

• Comprehensive neuropsychological assessment at diagnosis is recommended to establish baseline cognitive function, according to The Lancet Neurology 1
• Functional assessment using standardized scales is used to document baseline muscle strength and function, as suggested by The Lancet Neurology 2

Core Management Components

Neuromuscular Management

• Regular monitoring of muscle strength and function every 6 months using standardized assessments is recommended, as suggested by The Lancet Neurology 2
• Implementation of gentle exercise and activity programs is recommended to maintain function, according to The Lancet Neurology 2

Cardiac Management

• Regular cardiac monitoring with ECG, echocardiogram, and Holter monitoring is recommended, as suggested by The Lancet Neurology 3
• Early intervention with ACE inhibitors and beta-blockers is recommended for cardiac dysfunction, according to The Lancet Neurology 3

Psychosocial Support

• Designation of a care coordinator to serve as a point of contact for the family is recommended, as suggested by The Lancet Neurology 1
• Psychological assessment and support for emotional adjustment and coping is recommended, according to The Lancet Neurology 4
• Screening for depression, anxiety, and cognitive issues is recommended, as suggested by The Lancet Neurology 4

Specialized Interventions

Rehabilitation Services

• Regular physical and occupational therapy assessments every 4 months are recommended, as suggested by The Lancet Neurology 2
• Implementation of aids, adaptations, and environmental controls is recommended as needed, according to The Lancet Neurology 2

Long-term Planning

• Transition planning for adolescents moving to adult care is recommended, as suggested by The Lancet Neurology 1
• Development of educational and vocational opportunities is recommended, according to The Lancet Neurology 1
• Palliative care for pain management and emotional support is recommended as disease progresses, as suggested by The Lancet Neurology 1

Monitoring and Follow-up

• Routine clinic appointments every 6 months with the multidisciplinary team are recommended, as suggested by The Lancet Neurology 2