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1,008 Possible Causes for Loss of Ambulation between Third and Sixth Decade, Normal Muscle Biopsy, Persistent Notochordal Canal

  • Limb-Girdle Muscular Dystrophy Type 2J

    A muscle biopsy looks at the muscle fibres and whether they appear normal or not.[treat-nmd.eu] notochordal canal syndrome Salla disease Salt-and-pepper syndrome Sandhoff disease Sandhoff disease, adult form Sandhoff disease, infantile form Sandhoff disease, juvenile[se-atlas.de] Progressive muscle tissue damage causes weakness and sometimes loss of muscle bulk or replacement of normal muscle structure by fat or scar tissue.[my.clevelandclinic.org]

  • Infantile-Onset Ascending Hereditary Spastic Paralysis

    notochordal canal syndrome Salla disease Salt-and-pepper syndrome Sandhoff disease Sandhoff disease, adult form Sandhoff disease, infantile form Sandhoff disease, juvenile[se-atlas.de] […] syndrome SLC35A1-CDG SLC35A2-CDG SSR4-CDG STT3A-CDG STT3B-CDG SURF1-related Charcot-Marie-Tooth disease type 4 Sacral agenesis-abnormal ossification of the vertebral bodies-persistent[se-atlas.de]

    Missing: Loss of Ambulation between Third and Sixth Decade
  • Nemaline Myopathy

    By light microscopy, muscle biopsies ranged from almost normal, to chronic myopathy with sarcoplasmic and intranuclear rods.[ncbi.nlm.nih.gov] notochordal canal syndrome Salla disease Salt-and-pepper syndrome Sandhoff disease Sandhoff disease, adult form Sandhoff disease, infantile form Sandhoff disease, juvenile[se-atlas.de] Biopsy of clinically uninvolved gracilis muscle outside of the radiation portal revealed normal histology and ultrastructure.[ncbi.nlm.nih.gov]

    Missing: Loss of Ambulation between Third and Sixth Decade
  • Scapuloperoneal Spinal Muscular Atrophy

    Skeletal muscle biopsies from two affected individuals were essentially normal, and nerve conduction studies from one affected individual were normal.[ncbi.nlm.nih.gov] notochordal canal syndrome Sacral agenesis syndrome Sacral meningocele-conotruncal heart defects syndrome Sacral regression syndrome SACRAL syndrome Sacrococcygeal teratoma[orpha.net] Muscle biopsy revealed characteristic neurogenic findings: fiber type grouping and group atrophy.[n.neurology.org]

    Missing: Loss of Ambulation between Third and Sixth Decade
  • Lower Motor Neuron Syndrome with Late-Adult Onset

    Muscle biopsy revealed characteristic neurogenic findings: fiber type grouping and group atrophy.[neurology.org] notochordal canal syndrome Salla disease Salt-and-pepper syndrome Sandhoff disease Sandhoff disease, adult form Sandhoff disease, infantile form Sandhoff disease, juvenile[se-atlas.de] […] sensation -normal nerve conduction velocities -denervation on EMG -dec. # of motor units -muscle biopsy shows atrophic fibers & fiber grouping -seen in MRI -present: lower[brainscape.com]

    Missing: Loss of Ambulation between Third and Sixth Decade
  • Alpha-B Crystallinopathy

    Muscle biopsy may show inflammatory changes. No brain or eye abnormalities are present. Intellect is normal.[emedicine.medscape.com] notochordal canal syndrome Salla disease Salt-and-pepper syndrome Sandhoff disease Sandhoff disease, adult form Sandhoff disease, infantile form Sandhoff disease, juvenile[se-atlas.de] Muscle biopsy usually shows a dystrophic pattern of muscle-fiber necrosis and regeneration similar to that observed in Duchenne muscular dystrophy.[emedicine.medscape.com]

    Missing: Loss of Ambulation between Third and Sixth Decade
  • Congenital Non-Progressive Ataxia

    K. described more cases in a family with normal NCV and muscle biopsy. 1997 – Nelson J reported diffuse MRI abnormality in Cerebral and cerebellar atrophy with white matter[en.wikipedia.org] notochordal canal syndrome Salla disease Salt-and-pepper syndrome Sandhoff disease Sandhoff disease, adult form Sandhoff disease, infantile form Sandhoff disease, juvenile[se-atlas.de] […] syndrome SLC35A1-CDG SLC35A2-CDG SSR4-CDG STT3A-CDG STT3B-CDG SURF1-related Charcot-Marie-Tooth disease type 4 Sacral agenesis-abnormal ossification of the vertebral bodies-persistent[se-atlas.de]

    Missing: Loss of Ambulation between Third and Sixth Decade
  • Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia

    Myotubular (centronuclear): X-linked recessive; age of onset is 5 to 30 years; involvement of ocular, facial, and distal muscle; variable progression; CPK is normal or mildly[neupsykey.com] notochordal canal syndrome Salla disease Salt-and-pepper syndrome Sandhoff disease Sandhoff disease, adult form Sandhoff disease, infantile form Sandhoff disease, juvenile[se-atlas.de] […] increased; biopsy: central nuclei with halos and type 1 fiber atrophy. d.[neupsykey.com]

    Missing: Loss of Ambulation between Third and Sixth Decade
  • Achalasia - Microcephaly Syndrome

    Quadriceps muscle biopsy in cases 1 and 2 showed neurogenic atrophy.[jnnp.bmj.com] notochordal canal syndrome Salla disease Salt-and-pepper syndrome Sandhoff disease Sandhoff disease, adult form Sandhoff disease, infantile form Sandhoff disease, juvenile[se-atlas.de] In case 2 a severe axonal neuropathy with secondary demyelination but normal fibre density was observed. Little regeneration and no amyloid was seen.[jnnp.bmj.com]

    Missing: Loss of Ambulation between Third and Sixth Decade
  • Dermatitis

    […] your levels of muscle enzymes and autoantibodies, which are antibodies that attack normal cells a muscle biopsy to look for inflammation and other problems associated with[healthline.com] Your doctor may also order: an MRI to look for abnormal muscles an electromyography (EMG) to record electrical impulses that control your muscles a blood analysis to check[healthline.com]

    Missing: Loss of Ambulation between Third and Sixth Decade Persistent Notochordal Canal