Collagen related muscle diseases

COL6-related dystrophies are a form of congenital muscular dystrophy, ranging in phenotype from the severe Ullrich congenital muscular dystrophy (UCMD) to the milder Bethlem muscular dystrophy with intermediate COL6-RD falling in between. COL6-RDs display well-known patterns on muscle MRI including a "central cloud" and "rimming" in the rectus femoris muscle and an "outside-in" pattern in the vastus lateralis muscle; however, MRI cannot routinely be performed in young children without sedation. We conducted a retrospective review of muscle ultrasound (US) performed in our cohort of genetically confirmed COL6-RD patients.
Source: Neuromuscular Disorders - Category: Neurology Authors: Source Type: research

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ConclusionsMuscle ultrasound is a practical and reproducible and valid tool that can be used in assessment of suspected LGMD patients.
Source: QJM - Category: Internal Medicine Source Type: research
Oculopharyngeal muscular dystrophy (OPMD) is a rare, late onset, progressive muscle disorder with ptosis, dysphagia and limb weakness as the most common features. We aimed to assess whether quantitative muscle ultrasound (QMUS) can detect muscle abnormalities and disease progression in OPMD and can therefore be used as an imaging biomarker. A longitudinal study of 20 months was performed with forty-three genetically confirmed OPMD patients. The study protocol included QMUS of orofacial muscles, muscles of the upper and lower extremities and clinical measures of muscle strength (fixed dynamometry, MRC grading, maximum bite ...
Source: Neuromuscular Disorders - Category: Neurology Authors: Source Type: research
Duchenne muscular dystrophy (DMD) is a progressive muscular disease, but validated imaging tools to quantify muscle microstructure alteration as mobility declines are lacking. We aimed to determine the feasibility of using acoustic radiation force impulse shear-wave elastography (ARFI/SWE) in the quantitative assessment of lower limb muscle stiffness in DMD patients. Shear wave velocities (SWVs) of lower limbs were measured in 39 DMD patients and 36 healthy controls aged 3 –20 y. Mean SWV values of the controls and of the DMD patients at different ambulatory stages were compared using analysis of variance with Bonferroni correction.
Source: Ultrasound in Medicine and Biology - Category: Radiology Authors: Tags: Original Contribution Source Type: research
Roxana Carmen Cernat Emery–Dreifuss muscular dystrophy (EDMD) is a rare genetic disease that affects the musculoskeletal system, including the heart, causing rhythm disorders and cardiomyopathy, sometimes requiring an implantable cardioverter-defibrillator (ICD) or heart transplantation due to severe heart damage. The case described herein concerns a 16-year-old girl, with grade II obesity, without other known pathological antecedents or cardiac pathology diagnosis given an annual history of cardiological investigations. She was admitted to the Infectious Diseases Department with SARS-CoV-2 virus infection. Th...
Source: Genes - Category: Genetics & Stem Cells Authors: Tags: Case Report Source Type: research
by Antonietta Mele, Paola Mantuano, Adriano Fonzino, Francesco Rana, Roberta Francesca Capogrosso, Francesca Sanarica, Jean-Francois Rolland, Ornella Cappellari, Annamaria De Luca Themdx mouse model of Duchenne muscular dystrophy is characterized by functional and structural alterations of the diaphragm since early stages of pathology, closely resembling patients ’ condition. In recent years, ultrasonography has been proposed as a useful longitudinal non-invasive technique to assessmdx diaphragm dysfunction and evaluate drug efficacy over time. To date, only a few preclinical studies have been conducted. Therefore, ...
Source: PLoS One - Category: Biomedical Science Authors: Source Type: research
Conclusions: This study introduced and evaluated a new method/protocol, SMMG, for studying muscle dynamics and demonstrated its feasibility for muscle contraction onset research. This novel technology can potentially provide new insights for future studies of neuromuscular diseases, such as multiple sclerosis and muscular dystrophy.
Source: Sensors - Category: Biotechnology Authors: Tags: Article Source Type: research
Duchenne muscular dystrophy (DMD) is the most common form of inherited muscle disease in children. The incidence of cardiomyopathy induced by DMD increases with age. Left ventricular ejection fraction usually ...
Source: Cardiovascular Ultrasound - Category: Radiology Authors: Tags: Review Source Type: research
Myotonic dystrophy type 1 (DM1, MIM #160900), the most common muscular dystrophy among adults, is a multisystem disorder, which affects, besides the skeletal muscle, several other tissues and/or organs, including the gastrointestinal apparatus, with manifestations that frequently affect the quality of life of DM1 patients. So far, only few, mainly retrospective studies evaluated this specific topic in DM1, so we performed a perspective study, enrolling 61 DM1 patients who underwent an extensive diagnostic protocol, including administration of the Gastrointestinal Symptom Rating Scale (GSRS), a validated patient-reported qu...
Source: Frontiers in Neurology - Category: Neurology Source Type: research
Conclusions: Calf massage is safe and associated with benefits to muscle length and stiffness for ambulant boys with DMD.Implications for RehabilitationIn a small sample of boys with Duchenne muscular dystrophy, calf massage was found to be safe, well-tolerated and associated with increased muscle length and decreased stiffness.The use of massage may assist in managing muscle length in boys with Duchenne muscular dystrophy. PMID: 32356505 [PubMed - as supplied by publisher]
Source: Disability and Rehabilitation - Category: Rehabilitation Authors: Tags: Disabil Rehabil Source Type: research
AbstractAs the drug development pipeline for Duchenne muscular dystrophy (DMD) rapidly advances, clinical trial outcomes need to be optimized. Effective assessment of disease burden, natural history progression, and response to therapy in clinical trials for Duchenne muscular dystrophy are critical factors for clinical trial success. By choosing optimal biomarkers to better assess therapeutic efficacy, study costs and sample size requirements can be reduced. Currently, functional measures continue to serve as the primary outcome for the majority of DMD clinical trials. Quantitative measures of muscle health, including magn...
Source: Neurotherapeutics - Category: Neurology Source Type: research
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