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311 Possible Causes for Loss of Ambulation between Third and Sixth Decade, Loss of Motor Milestones, Persistent Notochordal Canal

  • Limb-Girdle Muscular Dystrophy Type 2J

    In such cases, affected individuals have severe muscle weakness of both the arms and legs, loss of muscle tone (hypotonia), and delays in attaining motor milestones.[rarediseases.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]

  • 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
  • Distal Hereditary Motor Neuropathy Type 1

    Delayed gross and fine motor milestones, awkward/slow running, frequent falls, recurrent ankle injuries, progressive fatigue/poor endurance, distal extremity pain/cramps.[now.aapmr.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] Early Onset: Severe forms may have infant hypotonia with delayed motor milestones, toe walking and even arthrogryposis; most present before age 20, with clumsiness and abnormal[now.aapmr.org]

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

    Intermediate NM (20% of patients; see this term) is characterized by slow achievement of gross motor milestones, and loss of ambulation and/or independent respiration by age[orpha.net] 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
  • Mucopolysaccharidosis 3

    The neurological involvement becomes more prominent around the age of 10 years with loss of motor milestones and communication problems.[orpha.net] Developmental milestones were normal until 5 years old when she developed restless behavior, loss of motor skills, stiff gait, muscular spasticity, hepatosplenomegaly, and[bloodjournal.org]

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

    Dental: Periodontal disease, premature loss of teeth. Muscular: Chronic pain, weakness, missed or delayed motor milestones.[news-medical.net] Children often have a delay in gross motor milestones and a static myopathy.[mayoclinic.org] A common feature of childhood HPP is premature loss of deciduous teeth (before 5 years of age) with the root intact.[mayoclinic.org]

    Missing: Loss of Ambulation between Third and Sixth Decade Persistent Notochordal Canal
  • Pineal Gland Cyst

    The birth weight was 2.8 kg and his motor and mental milestones were normal.[indianpediatrics.net] The parents denied history of headache, vomiting, seizure episodes, loss of consciousness and any other feature to suggest CNS illness.[indianpediatrics.net]

    Missing: Loss of Ambulation between Third and Sixth Decade Persistent Notochordal Canal
  • Pyruvate Carboxylase Deficiency

    […] of motor milestones, new-onset seizures, episodic incoordination, abnormal eye movements, and poor response to visual stimuli are signs of poor neurologic development or[emedicine.com] […] to the severity of the illness Developmental - Mental, psychomotor, and/or growth retardation are nonspecific signs of metabolic disease Neurologic - Poor acquisition or loss[emedicine.com]

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

    […] is congenital and severe/profound, to look for prolonged QT interval (especially if there are delayed motor milestones) • Audiometry on first degree relatives, to determine[bmb.oxfordjournals.org] Because of the vestibular deficit, developmental motor milestones for sitting and walking are generally achieved later than normal.[nature.com] Neuro-imaging CT and/or MRI, to exclude dilated vestibular aqueducts and Mondini malformations or other appearances suggestive of syndrome diagnoses 45 –47 ,98 ,99 • ECG if hearing loss[bmb.oxfordjournals.org]

    Missing: Loss of Ambulation between Third and Sixth Decade Persistent Notochordal Canal
  • Familial Recurrent Peripheral Facial Palsy

    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 Loss of Motor Milestones