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705 Possible Causes for Floppy Muscle, Muscle Biopsy showing Variation In Fiber Size, Onset between 6 and 14 Years

  • Limb-Girdle Muscular Dystrophy

    Muscle biopsy can show diffuse variation in fiber size, necrosis, regeneration and fibrosis.[dnatesting.uchicago.edu] Early motor milestones: Most normal; Toe walking common Range: 2 to 45 years; Median 14 to 20 years; 71% between 6 to 18 years Weakness: Proximal legs; Rectus abdominus No[neuromuscular.wustl.edu] […] no symptoms Bethlem myopathy Floppy muscles in infancy 2/3 of patents are wheelchair bound Proximal muscle weakness by age 50 Contractures * Includes alpha, beta, gamma and[encyclopedia.com]

  • Muscular Dystrophy

    Symptoms include: Myotonia (prolonged muscle spasm) in the fingers and facial muscles A floppy-footed, high-stepping gait (walk or run) Cataracts Heart abnormalities Endocrine[ohsu.edu] 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] Myotonic MD Myotonic MD varies in the age of onset and is characterized by myotonia (prolonged muscle spasm) in the fingers and facial muscles.[christopherreeve.org]

    Missing: Onset between 6 and 14 Years
  • Congenital Merosin-Positive Muscular Dystrophy

    (Top) Muscle biopsy showing variation in muscle fiber size with atrophic and hypertrophic fibers.[myslide.es] […] tissue disease 0003198 Neck muscle weakness Floppy neck 0000467 Neonatal hypotonia Low muscle tone, in neonatal onset 0001319 Proximal muscle weakness Weakness in muscles[rarediseases.info.nih.gov] Merosin Positive CMD The term, 'Merosin Positive CMD,' refers to persons who fit a CMD picture with floppy muscle tone and may present with respiratory and feeding difficulty[disabled-world.com]

    Missing: Onset between 6 and 14 Years
  • Mitochondrial Myopathy with Reversible Cytochrome C Oxidase Deficiency

    Muscle biopsy showed variation in fiber size, and numerous ragged-red fibers that were COX negative.[pediatricneurologybriefs.com] @article{Rimoldi1982CytochromeCoxidaseDI, title {Cytochrome-C-oxidase deficiency in muscles of a floppy infant without mitochondrial myopathy}, author {Monica Rimoldi and[semanticscholar.org] Can J Neurol Sci 7 (4) : 409-412 Cytochrome-C-oxidase Deficiency in Muscles of a Floppy Infant 207 2.[docslide.net]

    Missing: Onset between 6 and 14 Years
  • 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] […] no symptoms Bethlem myopathy Floppy muscles in infancy 2/3 of patents are wheelchair bound Proximal muscle weakness by age 50 Contractures * Includes alpha, beta, gamma and[encyclopedia.com] […] weakness Contractures Difficulties swallowing Caveolinopathy Approx. 5 years Mild to moderate proximal weakness Muscle cramping Enlargement of the calf muscles Some have[encyclopedia.com]

    Missing: Onset between 6 and 14 Years
  • Rigid Spine Syndrome

    muscle weakness Floppy neck 0000467 Respiratory insufficiency Respiratory impairment 0002093 Scoliosis Abnormal curving of the spine 0002650 Spinal rigidity Reduced spine[rarediseases.info.nih.gov] Muscle biopsy performed in the older brother showed increase in fibrosis, variation in fiber size, type I fibre predominance, and the presence of central and eccentric cores[cags.org.ae] Summary  Congenital myopathies not so uncommon in india, and an important diagnosis to be considered in a floppy infant  Muscle histopathology is the gold standard for diagnosis[slideshare.net]

    Missing: Onset between 6 and 14 Years
  • Multicore Myopathy with External Ophthalmoplegia

    Affected infants have diminished muscle tone (hypotonia) resulting in abnormal "floppiness", muscle weakness, and a variety of skeletal abnormalities such as side-to-side[rarediseases.org] Summary  Congenital myopathies not so uncommon in india, and an important diagnosis to be considered in a floppy infant  Muscle histopathology is the gold standard for diagnosis[slideshare.net] Muscle weakness causes affected infants to appear "floppy" (hypotonic) and can delay the development of motor skills such as sitting, standing, and walking.[ghr.nlm.nih.gov]

    Missing: Onset between 6 and 14 Years
  • Distal Myopathy Type 3

    Figure 2 Immunohistochemistry, immunoblotting and molecular genetic analysis. ( A ) Micrograph of the muscle biopsy of the right gastrocnemius muscle showing markedly increased[jmedicalcasereports.biomedcentral.com] Age of onset of initial symptoms varied between patients: In family A (Fig. 1A ), while patient 6 was symptomatic already at 2 years of age, patients 1, 5 and 7 recall initial[bmcmedgenet.biomedcentral.com] Muscle biopsy will demonstrate the dystrophic myopathy.[explainmedicine.com]

  • Pernicious Anemia

    Pernicious anemia (per-NISH-us uh-NEE-me-uh) is a condition in which the body can't make enough healthy red blood cells because it doesn't have enough vitamin B12. Vitamin B12 is a nutrient found in some foods. The body needs this nutrient to make healthy red blood cells and to keep its nervous system working[…][web.archive.org]

    Missing: Muscle Biopsy showing Variation In Fiber Size Onset between 6 and 14 Years
  • 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] They will see if the muscles are floppy or flaccid, to check for deep tendon reflexes and muscle fasciculation of the tongue muscle.[medicalnewstoday.com] Babies with this type of SMA have decreased muscle and trunk tone, resulting in floppiness of the limbs and weak arm and leg movements.[healthofchildren.com]

    Missing: Onset between 6 and 14 Years

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