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338 Possible Causes for Muscle Biopsy showing Variation In Fiber Size, Sloping Shoulders, Urine Hyaluronic Acid Increased

  • Muscular Dystrophy

    Muscle biopsies of the proband showed large variations in muscle fiber size, necrotic and regenerating fibers and an increase in endomysial collagen tissue.[ncbi.nlm.nih.gov] […] muscle weakness causes deformities such as pronounced shoulder blades (scapular winging) and sloping shoulders.[web.archive.org] variation in muscle fiber size not segregated by motor unit.[merckmanuals.com]

    Missing: Urine Hyaluronic Acid Increased
  • Ruijs Aalfs Syndrome

    Down-sloping shoulders MedGen UID: 346461 • Concept ID: C1856872 • Finding Low set, steeply sloping shoulders.[ncbi.nlm.nih.gov] […] to Ruijs-Aalfs syndrome include: Triangular face Bulbous nose Prominent nasal bridge Frontal bossing Delayed skeletal maturation Skeletal muscle atrophy Weight Loss Down-sloping[familydiagnosis.com] In addition, he had thoracic kyphoscoliosis, sloping shoulders, mild pectus excavatum, moderate bilateral contractures of both elbows, bilateral clinodactyly, and pes planus[ncbi.nlm.nih.gov]

    Missing: Muscle Biopsy showing Variation In Fiber Size
  • Facioscapulohumeral Muscular Dystrophy

    Muscle biopsy showed increased variation in fiber size and multifocal degenerating fibers with lymphocytic infiltration.[ncbi.nlm.nih.gov] […] 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]

    Missing: Urine Hyaluronic Acid Increased
  • Arthrogryposis due to Muscular Dystrophy

    Muscle biopsy shows variation in fiber size, a central nucleus, and replacement of muscle tissue by fibrosis and proliferation of adipose tissue.[pediatricneuro.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]

    Missing: Urine Hyaluronic Acid Increased
  • Duchenne Muscular Dystrophy

    Duchenne muscular dystrophy (DMD) is an X-linked inherited neuromuscular disorder due to mutations in the dystrophin gene. It is characterized by progressive muscle weakness and wasting due to the absence of dystrophin protein that causes degeneration of skeletal and cardiac muscle. The molecular diagnostic of[…][ncbi.nlm.nih.gov]

    Missing: Sloping Shoulders Urine Hyaluronic Acid Increased
  • Arthrogryposis Syndrome

    Muscle biopsy shows variation in fiber size, a central nucleus, and replacement of muscle tissue by fibrosis and proliferation of adipose tissue.[pediatricneuro.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.[merckmanuals.com]

    Missing: Urine Hyaluronic Acid Increased
  • Becker Muscular Dystrophy

    The muscle biopsy was myopathic with increased fiber size variation and many internal nuclei, but no dystrophy. No comorbidity was found.[ncbi.nlm.nih.gov] Muscle biopsy revealed mild myopathic features including variation in fiber size and a few necrotic and regenerating muscle fibers.[doi.org] In both cases, western blot showed a reduced dystrophin band. Genetic evaluation revealed a deletion of exon 26 of the dystrophin gene in both.[ncbi.nlm.nih.gov]

    Missing: Sloping Shoulders Urine Hyaluronic Acid Increased
  • Arthrogryposis Multiplex Congenita

    The muscle biopsies showed fibrosis, variation in fiber size, and extensive fat replacement compatible with muscular dystrophy.[ncbi.nlm.nih.gov] In the classic manifestations of AMC, shoulders are sloped, adducted, and internally rotated, the elbows are extended, and the wrists and digits are flexed.[merckmanuals.com] All presented with arthrogryposis multiplex congenita, severe muscle wasting, lung hypoplasia, and hydrops.[ncbi.nlm.nih.gov]

    Missing: Urine Hyaluronic Acid Increased
  • Limb-Girdle Muscular Dystrophy Type 2B

    EMG showed myopathic changes and skeletal muscle biopsies showed severe myopathic changes with variation of fiber size, fiber splitting, increased connective tissue, and some[checkorphan.org]

    Missing: Sloping Shoulders Urine Hyaluronic Acid Increased
  • Limb-Girdle Muscular Dystrophy

    Muscle biopsy can show diffuse variation in fiber size, necrosis, regeneration and fibrosis.[dnatesting.uchicago.edu] Muscle biopsy shows evidence of a dystrophy with random variation in fiber size and evidence of degeneration and regeneration. Type one fibers may predominate.[ncbi.nlm.nih.gov] , identified by careful examination or ancillary investigations such as muscle CT scan (in some individuals) Testing Muscle biopsy Histology.[ncbi.nlm.nih.gov]

    Missing: Sloping Shoulders Urine Hyaluronic Acid Increased

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