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51 Possible Causes for Muscle Biopsy Abnormal, Sloping Shoulders

  • Muscular Dystrophy

    This condition is typically characterized by large and abnormally distributed mitochondria on muscle biopsy, which can distinguish this condition from the other muscle conditions[ncbi.nlm.nih.gov] […] muscle weakness causes deformities such as pronounced shoulder blades (scapular winging) and sloping shoulders.[web.archive.org] Under the microscope, the muscle of a positive biopsy generally shows dead tissue and abnormally large muscle fibers.[cedars-sinai.edu]

  • Facioscapulohumeral Muscular Dystrophy

    If genetic testing does not confirm the diagnosis, then muscle biopsy can be done.[merckmanuals.com] […] level Shoulder muscle weakness causes deformities such as pronounced shoulder blades (scapular winging) and sloping shoulders.[nlm.nih.gov] […] muscle weakness causes deformities such as pronounced shoulder blades (scapular winging) and sloping shoulders.[ufhealth.org]

  • Myopathy

    Clinical presentation, abnormal secretion of the collagen demonstrated in muscle biopsy and the COL6A1 c.1056 3A C mutation justify classification of the presented case as[ncbi.nlm.nih.gov] Neurological examinations revealed sloping shoulders, weakness, and atrophy in the proximal areas of the arms, shoulder girdle muscles, and legs.[ncbi.nlm.nih.gov] Laing early onset distal myopathy: slow myosin defect with variable abnormalities on muscle biopsy. J Neurol Neurosurg Psychiatry. 2006;77:208-15.[rarediseases.org]

  • Myoadenylate Deaminase Deficiency

    The electromyogram showed myopathic abnormalities in the biceps, it was normal in quadriceps and anterior tibial muscles. A quadriceps muscle biopsy was performed.[ncbi.nlm.nih.gov] In FSHD, due to pectoral atrophy and scapular laxity, the anterior axillary folds point inward, toward the neck, and the shoulders often slope downward.[sites.google.com] Muscle biopsy showed absence of adenosine monophosphate deaminase activity with normal cytochrome c oxidase and phosphorylase activity.[ncbi.nlm.nih.gov]

  • Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome

    […] intramuscular pH regulation at rest & during mild exercise Serum CK Recurent elevations with moderate exercise: Up to 15,000 Normal between attacks Muscle biopsy Histology[neuromuscular.wustl.edu] shoulders, aged appearance of the hands and feet and facial dysmorphism (beaked nose and severe retrognathia).[orpha.net] shoulders ; Hypergonadotropic hypogonadism ; Intellectual disability ; Lipodystrophy ; Mitral regurgitation ; Ptosis ; Retrognathia ; Short clavicles Associated Genes LMNA[mousephenotype.org]

  • Birth

    […] and the nerves that control them Imaging studies such as MRI scan or muscle ultrasound to detect muscle inflammation A muscle biopsy to diagnose muscle abnormalities such[rarediseases.info.nih.gov] As the child’s lower shoulder advances, it meets the sloping resistance of the pelvic floor on the right side and is shunted forward and to the left toward the middle of the[britannica.com] […] kinase and aldolase Blood tests to detect specific autoantibodies that cause the autoimmune response associated with polymyositis Electromyography to check the health of the muscles[rarediseases.info.nih.gov]

  • Puerperium

    […] and the nerves that control them Imaging studies such as MRI scan or muscle ultrasound to detect muscle inflammation A muscle biopsy to diagnose muscle abnormalities such[rarediseases.info.nih.gov] As the child’s lower shoulder advances, it meets the sloping resistance of the pelvic floor on the right side and is shunted forward and to the left toward the middle of the[britannica.com] […] kinase and aldolase Blood tests to detect specific autoantibodies that cause the autoimmune response associated with polymyositis Electromyography to check the health of the muscles[rarediseases.info.nih.gov]

  • Hamamy Syndrome

    Skeletal muscle biopsies of CFC demonstrate relatively normal architecture, but abnormal muscle fiber size and variability, with a predominance of type 2 muscle fibers. 67[pediatrics.aappublications.org] shoulders pterygium colli Skeletal Skull: craniosynostosis (in some patients) Head And Neck Eyes: laterally sparse eyebrows severe hypertelorism myopia, progressive severe[malacards.org] shoulders Rounded shoulders Rounded, sloping shoulders Sloping shoulders [ more ] 0200021 Frontal bossing 0002007 High, narrow palate Narrow, high-arched roof of mouth Narrow[rarediseases.info.nih.gov]

  • Distal Myopathy Type 3

    Myoglobinuria Other features Laboratory Findings Creatine Kinase Muscle Biopsy Electromyogram Medication induced Corticosteroids [1] Variable Proximal Central obesity Excessive[wikidoc.org] In FSHD, due to pectoral atrophy and scapular laxity, the anterior axillary folds point inward, toward the neck, and the shoulders often slope downward.[sites.google.com] CK and abnormal muscle biopsy findings. [1], [3] The Miyoshi myopathy may be distinct among the hereditary distal myopathies.[ruralneuropractice.com]

  • Arthrogryposis due to Muscular Dystrophy

    […] is being broken down); distinctive abnormalities on muscle biopsy; characteristic electromyographic and nerve conduction abnormalities; and genetic testing.[healthofchildren.com] In the classic manifestations of AMC, shoulders are sloped, adducted, and internally rotated, the elbows are extended, and the wrists and digits are flexed.[msdmanuals.com] Muscle biopsy distinguishes myopathic from neuropathic conditions Imaging X-rays are done to evaluate skeletal and joint abnormalities: Ultrasonography evaluates the CNS anomalies[boneandspine.com]

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