Development of the SMA EFFORT: A new approach to characterize perceived physical fatigability in spinal muscular atrophy.

Background: Fatigue and fatigability are commonly reported in spinal muscular atrophy (SMA). Physical fatigability, proposed to be the most relevant to SMA pathophysiology, encompasses performance-based and perceived physical fatigability (PPF) assessments. While performance-based measures have highlighted physical fatigability as an SMA hallmark, PPF is not well characterized due to the lack of disease- and construct-specific scales.

Antisense oligonucleotide therapy in an individual with KIF1A-associated neurological disorder.

KIF1A-associated neurological disorder (KAND) is a neurodegenerative and often lethal ultrarare disease with a wide phenotypic spectrum associated with largely heterozygous de novo missense variants in KIF1A. Antisense oligonucleotide treatments represent a promising approach for personalized treatments in ultrarare diseases. Here we report the case of one patient with a severe form of KAND characterized by refractory spells of behavioral arrest and carrying a p.

Criterion Validity and Reliability of 2 Brief Physical Activity Questionnaires in Ethnically Diverse Adults.

Purpose: The study compares moderate- to vigorous-intensity physical activity (MVPA) as evaluated by the Exercise Vital Signs (EVS) and Physical Activity Vital Signs (PAVS) questionnaires to accelerometry, and evaluates the reliability of the questionnaires in ethnically diverse adults.

Methods: Ninety-nine participants (mean age 38.1 y; 49.

Accurate COP Trajectory Estimation in Healthy and Pathological Gait Using Multimodal Instrumented Insoles and Deep Learning Models.

Measuring center-of-pressure (COP) trajectories in out-of-the-lab environments may provide valuable information about changes in gait and balance function related to natural disease progression or treatment in neurological disorders. Traditional equipment to acquire COP trajectories includes stationary force plates, instrumented treadmills, electronic walkways, and insoles featuring high-density force sensing arrays, all of which are expensive and not widely accessible. This study introduces novel deep recurrent neural networks that can accurately estimate dynamic COP trajectories by fusing data from affordable and heterogeneous insole-embedded sensors (namely, an eight-cell array of force sensitive resistors (FSRs) and an inertial measurement unit (IMU)).

How is Physical Activity Measured in Spinal Muscular Atrophy and Duchenne Muscular Dystrophy?

Background: Physical activity (PA) provides many substantial benefits to help reduce risk for cardiometabolic disease, improve cognitive function, and improve quality of life. Individuals with neuromuscular disorders (NMDs), such as spinal muscular atrophy (SMA) and Duchenne muscular dystrophy (DMD) are characterized by muscular weakness and fatigue, which limits the capacity to reach the recommended guidelines of PA. Measuring PA in these populations can provide insight to participation in daily activities, track disease progression, and monitor efficacy of drug treatments.

Perceived exertion is not a substitute for fatiguability in spinal muscular atrophy.

Introduction/aims: Fatiguability and perceived fatigue are common unrelated symptoms in ambulatory individuals with spinal muscular atrophy (SMA). Ratings of perceived exertion (RPE) measures the sense of effort during an activity and has been used as a proxy for fatigue. Relationships between perceived fatigue, fatiguability, and RPE have been described in healthy populations, but the relationship in SMA has not been examined.

Essential competencies for physical therapist managing individuals with spinal muscular atrophy: A delphi study.

Background And Purpose: With the availability and development of disease-modifying therapies for individuals with spinal muscular atrophy (SMA), new emerging phenotypes must be characterized, and potential new treatment paradigms tested. There is an urgent demand to develop an educational program that provides physical therapists (PTs) worldwide the necessary knowledge and training to contribute to best-practice care and clinical research. A competency based education framework is one that would focus on outcomes not process and where progression of learners would occur only after competencies are demonstrated.

Diminished muscle oxygen uptake and fatigue in spinal muscular atrophy.

Objective: To estimate muscle oxygen uptake and quantify fatigue during exercise in ambulatory individuals with spinal muscular atrophy (SMA) and healthy controls.

Methods: Peak aerobic capacity (VO ) and workload (W ) were measured by cardiopulmonary exercise test (CPET) in 19 ambulatory SMA patients and 16 healthy controls. Submaximal exercise (SME) at 40% W was performed for 10 minutes.