Create issue ticket

353 Possible Causes for Adult-Onset Rarely Reported, Loss of Ambulation between Third and Sixth Decade, 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: Adult-Onset Rarely Reported
  • Lower Motor Neuron Syndrome with Late-Adult Onset

    Adult-onset SMN1 SMA is rare, whereas LMNA mutations, designated as laminopathies, may underlie up to 10% of autosomal dominant (AD) SMA.[ahcmedia.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] ALS; predominantly lower motor neuron involve- ment; rarely reported cognitive impairment) - Signs of UMN degeneration TARDBP (TDP43) (1p36.22) 3% Mainly missense and one[redalyc.org]

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

    Nemaline myopathy is a rare congenital muscle disease, with neonatal or adult onset.[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] We report a rare case of heart failure (HF) in a patient with adult-onset NM in whom ivabradine proved to be able to dramatically improve the clinical picture.[ncbi.nlm.nih.gov]

    Missing: Loss of Ambulation between Third and Sixth Decade
  • Congenital Spinal Cord Anomaly

    Adult onset of tethered cord syndrome was considered to be rare for many years, but an increasing number of cases have been reported in recent years.[rarediseases.org] Around the third week of gestation, when the cells from Hensen’s node are proliferating and migrating, there may be a focal splitting of the notochord secondary to a persistent[radiologykey.com] […] connection (canals of Kovalesky) between the endoderm and ectoderm .[radiologykey.com]

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

    The proposed aetiology of this exceptionally rare phenomenon is discussed. To our knowledge, previous cases have only been reported in the adult population.[ncbi.nlm.nih.gov] We present the case of a 5-year-old boy who developed a delayed onset intractable hyperventilation following endoscopic third ventriculostomy.[ncbi.nlm.nih.gov]

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

    Onset of adrenal insufficiency or other features may be rarely delayed to adulthood. Patients presenting with Allgrove syndrome in adulthood are rarely reported.[annalsofian.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] Manifestations in adult patients are rarely reported.[jnnp.bmj.com]

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

    It is extremely rare in adults, and the number of reports is limited worldwide.[ncbi.nlm.nih.gov] It is a syndrome encompassing an onset of high fever, disturbance of consciousness, convulsion, and shock that rapidly progresses to watery diarrhea and liver and renal dysfunctions[ncbi.nlm.nih.gov]

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

    This is the first report of the adult-onset phenotype collagenous gastritis in a pediatric patient.[casesjournal.biomedcentral.com] Keywords Celiac Disease Achalasia Autoimmune Hemolytic Anemia Mesalamine Collagenous Colitis Introduction Collagenous gastritis is a rare gastrointestinal disorder characterized[casesjournal.biomedcentral.com] We present two cases of pediatric onset collagenous gastritis: one with a classic pediatric presentation, the other with findings typical of adult-onset disease.[casesjournal.biomedcentral.com]

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

    Adult-onset Still's disease (AOSD) is an uncommon inflammatory condition of unknown origin and pathogenesis.[ncbi.nlm.nih.gov] Pulmonary manifestations are rare and include pleuritis and transient radiological infiltrations.[ncbi.nlm.nih.gov] We report a case of a young woman with AOSD who developed unusual respiratory symptoms, with bilateral lower lobar atelectasis and restrictive syndrome and reviewed the literature[ncbi.nlm.nih.gov]

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