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The High-Level Mobility Assessment Tool (Himat) In Myotonic Dystrophy Type 2: A Case Report, Kim B. Smith, Evan M. Pucillo

Physical Therapy Collection

Myotonic dystrophy type 2 (DM2) is a progressive muscular dystrophy with multi-system manifestations and can affect functional mobility, gait, and balance. Currently, there are few reports of functional outcome measures in this population. This case describes the change in function detected by the High-level Mobility Assessment Tool (HiMAT) and 30-second Chair Stand Test (CST) in a high-functioning adult female with DM2 after physical therapy treatment. The patient’s chief complaint was muscular pain and fatigue that affected activities of daily living (ADLs). Multimodal physical therapy focused on neuromuscular re-education, balance and strength training, patient education, and moderate cardiorespiratory training. Improvements were …

The Modified Dynamic Gait Index And Limits Of Stability In Myotonic Dystrophy Type 1, Evan M. Pucillo, Melissa M. Mcintyre, Mary Pautler, Man Hung, Jerry Bounsanga, Maren W. Voss, Heather Hayes, Deanna Dibella, Caren Trujillo, Melissa Dixon, Russell Butterfield, Nicholas E. Johnson

Physical Therapy Collection

INTRODUCTION:

The purpose of this study was to describe and compare the performance of balance and walking tests in relation to self-reported fall history in adults with myotonic dystrophy type 1 (DM1).

METHODS:

Twenty-two (13 male) participants with DM1 completed, a 6-month fall history questionnaire, the modified Dynamic Gait Index (mDGI), limits of stability (LoS) testing, and 10-m walking tests.

RESULTS:

Mean (SD) falls in 6 months was 3.7 (3.1), and 19 (86%) participants reported at least 1 fall. Significant differences in mDGI scores (P = 0.006) and 10-m fast walking gait velocity (P = 0.02) were found between those …

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 …