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527 Possible Causes for Loss of Ambulation between Third and Sixth Decade, Muscle Hypertonia, Persistent Notochordal Canal

  • Distal Hereditary Motor Neuropathy Type 1

    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
  • Limb-Girdle Muscular Dystrophy Type 2J

    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: Muscle Hypertonia
  • Muscle Spasticity

    This is the 'neural component' of muscle hypertonia.[ncbi.nlm.nih.gov] This suggests that the MAS measures muscle hypertonia rather than spasticity.[ncbi.nlm.nih.gov] A form of muscle hypertonia associated with upper MOTOR NEURON DISEASE.[profiles.umassmed.edu]

    Missing: Loss of Ambulation between Third and Sixth Decade Persistent Notochordal Canal
  • Kohlschütter-Tönz Syndrome

    Kohlschutter-Tonz syndrome (KTS) is a rare autosomal-recessive disorder of childhood onset, and it is characterized by global developmental delay, spasticity, epilepsy, and amelogenesis imperfecta. In 12 KTS-affected individuals from a Druze village in northern Israel, homozygosity mapping localized the gene linked to[…][ncbi.nlm.nih.gov]

    Missing: Loss of Ambulation between Third and Sixth Decade Persistent Notochordal Canal
  • Wolcott-Rallison Syndrome

    Wolcott–Rallison syndrome, WRS, is a rare, autosomal recessive disorder with infancy-onset diabetes mellitus, multiple epiphyseal dysplasia, osteopenia, mental retardation or developmental delay, and hepatic and renal dysfunction as main clinical findings. Patients with WRS have mutations in the EIF2AK3 gene, which encodes[…][en.wikipedia.org]

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

    […] with brisk muscle stretch reflexes.[annalsofian.org] […] sparse hair with coarse texture, pili torti, perianal dermatitis, high arched palate, open mouth, gingival prominence, cutis laxa, profound axial hypotonia, and appendicular hypertonia[annalsofian.org]

    Missing: Loss of Ambulation between Third and Sixth Decade Persistent Notochordal Canal
  • GLUT1 Deficiency Syndrome

    Glucose Transporter Type 1 Deficiency Syndrome (Glut1 DS) is a rare disease with an estimated birth incidence of 1 in 90,000 (Coman, 2006). This birth incidence translates to an estimated prevalence of 3,000 to 7,000 in the U.S. Glut1 DS is a debilitating disease characterized by seizures, movement disorders and[…][epilepsy.com]

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

    Neurology. 2005 Nov 8;65(9):1493-5. Epub 2005 Sep 21. Author information 1 Mitochondrial and Metabolic Disease Center, Department of Medicine, University of California, San Diego, CA, USA. Abstract Described are six patients with Alpers syndrome from four unrelated families. Affected individuals harbored the following[…][ncbi.nlm.nih.gov]

    Missing: Loss of Ambulation between Third and Sixth Decade Persistent Notochordal Canal
  • Maple Syrup Urine Disease

    (muscle rigidity) and hypotonia (muscle limpness) high-pitched cry Signs of intermediate and thiamine-response MSUD include: seizures neurological deficiencies developmental[healthline.com] […] lethargy poor appetite weight loss weak sucking ability irritability a distinctive maple sugar odor in earwax, sweat, and urine irregular sleep patterns alternating episodes of hypertonia[healthline.com]

    Missing: Loss of Ambulation between Third and Sixth Decade Persistent Notochordal Canal
  • Autosomal Recessive Spastic Paraplegia Type 18

    Increased muscle tone of arm or leg 0002509 Parietal hypometabolism in FDG PET 0012662 Scoliosis Abnormal curving of the spine 0002650 Spasticity Involuntary muscle stiffness[rarediseases.info.nih.gov] […] retardation, nonspecific Mental-retardation [ more ] 0001249 Knee flexion contracture 0006380 Kyphosis Hunched back Round back [ more ] 0002808 Language impairment 0002463 Limb hypertonia[rarediseases.info.nih.gov]

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

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