Gait pattern in two rare genetic conditions characterized by muscular hypotonia: Ehlers-Danlos and Prader-Willi syndrome.
Gait deficits differ between EDS (ankle-focused) and PWS (whole lower-limb); tailor rehab accordingly.
01Research in Context
What this study did
Cimolin et al. (2011) watched adults walk in a lab. They had two rare genetic groups: Ehlers-Danlos syndrome and Prader-Willi syndrome.
The team used cameras and force plates to map each joint. They wanted to see where the gait breaks down.
What they found
PWS adults moved like their whole leg was one block. Hips and knees were stiff first, then the ankle.
EDS adults looked almost normal except at the ankle. The foot rolled too much and pushed off weakly.
How this fits with other research
Galli et al. (2011) tested balance in the same EDS group. They saw wobbling when eyes closed, matching the ankle weakness Veronica found.
Deserno et al. (2017) measured gait asymmetry in kids with DCD. Their step-length ratios echo the stiff pattern seen in PWS, but in a younger group.
Stewart et al. (2018) linked foot pressure asymmetry to walking loss in Rett syndrome. The distal focus fits the EDS ankle problem, showing foot mechanics matter across rare disorders.
Why it matters
If you work with PWS, stretch hips and knees before teaching walking skills. If you work with EDS, add ankle braces or foot orthotics. Match the joint that is stuck, not the diagnosis label.
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02At a glance
03Original abstract
This study aimed to quantify and compare the gait pattern in Ehlers-Danlos (EDS) and Prader-Willi syndrome (PWS) patients to provide data for developing evidence-based rehabilitation strategies. Twenty EDS and 19 PWS adult patients were evaluated with an optoelectronic system and force platforms for measuring kinematic and kinetic parameters during walking. The results were compared with those obtained in a group of 20 normal-weight controls (CG). The results showed that PWS patients walked with longer stance duration and reduced velocity than EDS, close to CG. Both EDS and PWS showed reduced anterior step length than CG. EDS kinematics evidenced a physiological position at proximal joints (pelvis and hip joint) while some deficits were displayed at knee (reduced flexion in swing phase) and ankle level (plantar flexed position in stance and reduced dorsal flexion in swing). PWS showed a forward tilted pelvis in the sagittal plane, excessive hip flexion during the whole gait cycle and an increased hip movement in the frontal plane. Their knees were flexed at initial contact with reduced range of motion while ankle joints showed a plantar flexed position during stance. No differences were found in terms of ankle kinetics and joint stiffness. Our data showed that EDS and PWS patients were characterized by a different gait strategy: PWS showed functional limitations at every level of the lower limb joints, whereas in EDS limitations, greater than PWS, were reported mainly at the distal joints. PWS patients should be encouraged to walk for its positive impact on muscle mass and strength and energy balance. For EDS patients the rehabilitation program should be focused on ankle strategy improvement.
Research in developmental disabilities, 2011 · doi:10.1016/j.ridd.2011.02.028