Nervous System Diseases Commons^™

Disease Burden And Functional Outcomes In Congenital Myotonic Dystrophy: A Cross-Sectional Study, Nicholas E. Johnson, Russell Butterfield, Kiera Berggren, Man Hung, Wei Chen, Deanna Dibella, Melissa Dixon, Heather Hayes, Evan M. Pucillo, Jerry Bounsanga, Chad Heatwole, Craig Campbell

Physical Therapy Collection

OBJECTIVE: Herein, we describe the disease burden and age-related changes of congenital-onset myotonic dystrophy (CDM) in childhood.

METHODS: Children with CDM and age-matched controls aged 0 to 13 years were enrolled. Participants were divided into cohorts based on the following age groups: 0-2, 3-6, and 7-13 years. Each cohort received age-appropriate evaluations including functional testing, oral facial strength testing, neuropsychological testing, quality-of-life measurements, and ECG. Independent-samples t test or Wilcoxon 2-sample test was used to compare the differences between children with CDM and controls. Probability values less than 0.05 are reported as significant.

RESULTS: Forty-one participants with CDM and 29 …

Management Of Charcot–Marie–Tooth Disease: Improving Long-Term Care With A Multidisciplinary Approach, Donald Mccorquodale, Evan M. Pucillo, Nicholas E. Johnson

Physical Therapy Collection

Charcot–Marie–Tooth (CMT) disease is the most common inherited neuropathy and one of the most common inherited diseases in humans. The diagnosis of CMT is traditionally made by the neurologic specialist, yet the optimal management of CMT patients includes genetic counselors, physical and occupational therapists, physiatrists, orthotists, mental health providers, and community resources. Rapidly developing genetic discoveries and novel gene discovery techniques continue to add a growing number of genetic subtypes of CMT. The first large clinical natural history and therapeutic trials have added to our knowledge of each CMT subtype and revealed how CMT impacts patient quality of life. In …