Early signs of gait deviation in Duchenne muscular dystrophy

NewsBot · Jun 5, 2025

Muscle weakness but also contractures contribute to the progressive gait pathology in children with Duchenne muscular dystrophy: a simulation study
Ines Vandekerckhove et al
J Neuroeng Rehabil. 2025 May 4;22(1):103.

Background: Muscle weakness and contractures cause gait deficits in children with Duchenne muscular dystrophy (DMD) but their relative contributions are poorly understood and hence it is unclear whether contractures should be treated. Therefore, we aimed to differentiate the effect of muscle weakness in isolation from weakness and contractures combined on the gait patterns.

Methods: We used computer simulations that generate gait patterns based on a musculoskeletal model (without relying on experimental data) to establish the relationship between muscle impairments and gait deviations. We previously collected a longitudinal database of 137 repeated measurements in 30 boys with DMD and found that the data measured through 3D gait analysis could be clustered in three gait patterns. We estimated weakness based on data from fixed dynamometry, and contractures based on goniometry and clinical measures. Foot deformities were modeled by reducing the height of all foot segments and decreasing the strength of the intrinsic foot muscles. We created musculoskeletal models that either represented (1) the mean weakness; (2) the mean weakness and contractures; or (3) the mean weakness, contractures and foot deformities, in each gait pattern.

Results: Simulations based on models with both weakness and contractures captured most (but not all) experimentally observed gait deviations, demonstrating the validity of our approach. While muscle weakness was primarily responsible for gait deviations, muscle contractures and foot deformities further contributed to gait deviations. Interestingly, the simulations predict that the combination of increasing weakness and contractures rather than increasing weakness alone causes loss of ambulation for the most affected gait pattern.

Conclusions: Predictive simulations have the potential to elucidate causal relationships between muscle impairments and gait deviations in boys with DMD. In the future, they could be used to design targeted interventions (e.g. stretching, assistive devices) to prolong ambulation.
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NewsBot · Jun 11, 2025

Duchenne and Becker Muscular Dystrophy
Hugh J. McMillan, Basil T. Darras
Swaiman's Pediatric Neurology (Seventh Edition)

Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are collectively referred to as dystrophinopathies and result from an effective absence of a reduced quantity of functional dystrophin protein. DMD and BMD exist along a continuum with DMD at the more severe end of the spectrum. Full-length dystrophin is expressed in skeletal muscle, but smaller isoforms are expressed in other tissues including the brain that results in a higher incidence of learning difficulties and comorbid neuropsychiatric symptoms. Boys with DMD will typically present with symptoms around 2–5 years of age with symptoms that can include toe-walking, abnormal gait, exercise intolerance, or weakness, particularly at the end of the day. BMD typically presents at a later age and is characterized by slower rate of disease progression. Proximal weakness and/or myalgias are common in BMD, but patients may present with an isolated cardiomyopathy or an episode of pigmenturia without any clinically apparent weakness. Standard-of-care guidelines recommend multidisciplinary follow-up for patients due to the complex and multisystem involvement. Corticosteroid therapy (prednisone, deflazacort) has been used in DMD for many decades, although newer treatments are emerging that are hoped to change the natural history of DMD, preserving muscle strength and function and prolonging life expectancy.
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NewsBot · Oct 29, 2025

Longitudinal interaction between muscle impairments and gait pathology in growing children with Duchenne muscular dystrophy
Ines Vandekerckhove et al
J Neuroeng Rehabil. 2025 Oct 1;22(1):207.

Background: Children with Duchenne muscular dystrophy (DMD) present with progressive gait pathology due to progressive muscle weakness and contractures. However, the associations between specific muscle impairments and specific gait features have never been quantified. Therefore, the aim of this longitudinal observational cohort study was to investigate the longitudinal interaction between progressive muscle impairments and progressive gait pathology in growing boys with DMD.

Methods: Thirty-one boys with DMD (aged 4.6-16.4 years) were repeatedly measured between 2015 and 2022, resulting in a total dataset of 152 observations. Fixed dynamometry, goniometry and 3D gait analysis were used to assess lower limb muscle weakness, passive range of motion and gait. Joint random-effect models between gait and muscle outcomes were fitted. The correlation between the random intercepts (ra) and random slopes (rb) indicated the relationship between the initial values and progression rates over time of two outcomes, respectively.

Results: Specific muscle impairments were related to specific gait features, both in terms of initial values (ra=0.470-0.757; p < 0.029) and progression rates (rb=0.547-0.812; p < 0.024). Decreased hip extension strength was associated with increased maximal posterior trunk angle (rb=-0.588; p = 0.0004), increased maximal anterior pelvic tilt angle (ra=-0.543; p = 0.0040 and rb=-0.812; p < 0.0001), and reduced maximal hip extension moment (ra=0.536; p = 0.0289). Decreased hip abduction strength was associated with increased step width (ra=-0.549; p = 0.0021) and increased maximal internal foot progression angle (rb=-0.547; p = 0.0117). Decreased knee extension strength was associated with reduced maximal knee extension moment (ra=0.702; p < 0.0001), reduced maximal knee power absorption (ra=0.757; p < 0.0001), and reduced dorsiflexion angle at initial contact (rb=0.684; p = 0.0237). Decreased dorsiflexion range of motion was associated with reduced dorsiflexion angle at initial contact (ra=0.732; p < 0.0001 and rb=0.627; p = 0.0202) and reduced maximal dorsiflexion angle in swing (ra=0.663; p < 0.0001).

Conclusion: This is the first study that objectively quantified the longitudinal interaction between muscle impairments and gait features, providing valuable insights into the underlying mechanisms of pathological gait in DMD. The observed associations highlight the importance of targeted clinical assessments. These findings offer a foundation for optimizing rehabilitation strategies, orthotic management, and orthopedic interventions, ultimately improving clinical decision-making and enhancing mobility outcomes in children with DMD.
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NewsBot · Nov 17, 2025

FDA News Release
FDA Approves New Safety Warning and Revised Indication that Limits Use for Elevidys Following Reports of Fatal Liver Injury
For Immediate Release:
November 14, 2025

The U.S. Food and Drug Administration today announced it is taking action to approve new labeling submitted by the company that includes the addition of a Boxed Warning, the agency’s most prominent safety warning, to Elevidys (delandistrogene moxeparvovec-rokl), and that the indication section of the labeling limits the therapy’s indication to ambulatory patients four years of age and older with Duchenne muscular dystrophy (DMD). These actions follow reports of fatal acute liver failure in non-ambulatory patients treated with the product.

Elevidys is an AAVrh74 adeno-associated virus (AAV) vector-based gene therapy approved for the treatment of DMD in certain patients. In June 2025, the FDA issued a CBER Safety Communication following two reports of fatal acute liver failure in non-ambulatory pediatric males with DMD after receiving Elevidys. In response, the manufacturer voluntarily paused distribution of Elevidys for use in non-ambulatory patients.

In both fatal cases, patients developed markedly elevated liver enzymes and required hospitalization within two months of Elevidys infusion. An additional serious, non-fatal case of acute liver injury has involved complications such as mesenteric vein thrombosis, bowel ischemia and necrosis, and portal hypertension.

After a comprehensive evaluation of the available safety data, FDA has now approved substantial labeling revisions for Elevidys, including:

Addition of a Boxed Warning describing the risk of serious liver injury and acute liver failure, including fatal outcomes;
Limiting the indication to ambulatory patients with DMD who are 4 years of age and older with a confirmed mutation in the DMD gene;
Removal of the indication for non-ambulatory patients with DMD;
Addition of a Limitations of Use statement to guide clinical decision-making;
Updates to the Warnings and Precautions, Dosage and Administration, Adverse Reactions, Use in Specific Populations, Clinical Studies, and Patient Counseling Information sections; and
Inclusion of a new Medication Guide for patients and caregivers.

Key Safety Information for Patients and Health Care Providers

The revised labeling includes specific safety information and monitoring recommendations:

Liver monitoring: Weekly liver function tests are advised for at least three months after treatment. Patients should remain near an appropriate medical facility for at least two months post-infusion.
Prompt medical attention: Patients should contact their health care provider immediately if they experience yellowing of the skin or eyes, if they miss or vomit corticosteroid doses, or if the patient experiences a change in mental status.
Infection risk: Corticosteroid therapy may suppress immune function, increasing susceptibility to infections and serious complications including death.
Cardiac monitoring: Weekly testing for cardiac injury (troponin-I) is advised for one month following treatment.
Contraindications: Elevidys should not be used in patients with deletions involving DMD exons 8 and/or 9.
Limitations of Use: Elevidys is not recommended in patients with preexisting liver impairment, recent vaccinations, or recent/active infections.

Postmarketing Requirements

The FDA is requiring the manufacturer to conduct a postmarketing observational study to further assess the risk of serious liver injury. The study will enroll approximately 200 patients with DMD and follow them for at least 12 months after administration of Elevidys, with periodic liver function assessments.

Early signs of gait deviation in Duchenne muscular dystrophy

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Early signs of gait deviation in Duchenne muscular dystrophy

NewsBot The Admin that posts the news.

NewsBot The Admin that posts the news.

NewsBot The Admin that posts the news.

NewsBot The Admin that posts the news.

Early Signs of Motor Neuron Disease

Shoe Tread Wear Occurs Primarily during Early Stance

Patient With Early Stage PTTD (Posterior Tibial Tendon Dysfunction)

Evidence based research on early walker footwear

The role of podiatry in the early identification and prevention of lower limb venous disease

Academic Question: Name of oral drug for treating toe fungus in early 90s

Supinated heel strike early heel lift

Share This Page

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