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104 Possible Causes for Persistent Notochordal Canal, Proximal Muscle Weakness Limb Girdle Distribution, Severe Disability within 20 Years of Onset

  • Limb-Girdle Muscular Dystrophy Type 2J

    These autosomal dominant conditions are less severe than Beckers or DMD, but are severely disabling within 25 years of onset.[lecturio.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] LGMD is a progressive and disabling muscle disease as most patients loose mobility and become dependent on wheelchair within 20-30 years of symptom onset.[chs-journal.com]

    Missing: Proximal Muscle Weakness Limb Girdle Distribution
  • Limb-Girdle Muscular Dystrophy

    LGMD2A type is also known as Calpainopathy, which is characterized by selective atrophy and weakness of proximal limb muscles.[ncbi.nlm.nih.gov] These autosomal dominant conditions are less severe than Beckers or DMD, but are severely disabling within 25 years of onset.[lecturio.com] Introduction Limb girdle muscular dystrophy (LGMD) is a muscular dystrophy with predominantly proximal distribution of weakness that spares the distal, facial, and extraocular[circheartfailure.ahajournals.org]

    Missing: Persistent Notochordal Canal
  • Inclusion Body Myopathy

    muscle weakness in whom the main limb-girdle muscular dystrophy syndromes had been ruled out; and 2) 38 patients with a distal distribution of weakness in whom a neurogenic[ncbi.nlm.nih.gov] Muscle wasting usually starts around the age of 20 – 30 years. It can progress to marked disability within 10 – 15 years, confining many patients to a wheelchair.[snpedia.com] […] analysis of NCAM was performed on muscle biopsies of 84 patients with an uncharacterized muscle disorder who were divided in the following 2 groups: 1) 46 patients with a proximal[ncbi.nlm.nih.gov]

    Missing: Persistent Notochordal Canal
  • Limb-Girdle Muscular Dystrophy Type 1G

    Severe disability is observed within 20 years of onset SWISS-PROTDefects in TTN are the cause of hereditary myopathy with early respiratory failure (HMERF) [MIM:603689]; also[binfo.ncku.edu.tw] Severe disability is observed within 20 years of onset. Defects in TTN are the cause of early-onset myopathy with fatal cardiomyopathy (EOMFC) [MIM:611705].[abcam.com]

    Missing: Persistent Notochordal Canal Proximal Muscle Weakness Limb Girdle Distribution
  • 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: Proximal Muscle Weakness Limb Girdle Distribution Severe Disability within 20 Years of Onset
  • Status Epilepticus

    All patients presented with severe intellectual disability, autistic features, and hyperactivity. Epilepsy onset occurred within the first two years of life.[ncbi.nlm.nih.gov] In the two boys with a 20-years follow-up, epilepsy was drug-resistant during childhood, and became less active in early adolescence.[ncbi.nlm.nih.gov] ESES was present in three out of the five patients in the critical age window between 4 and 8 years.[ncbi.nlm.nih.gov]

    Missing: Persistent Notochordal Canal Proximal Muscle Weakness Limb Girdle Distribution
  • Muscular Dystrophy

    Many individuals with limb-girdle MD become severely disabled within 20 years of disease onset.[web.archive.org]

    Missing: Persistent Notochordal Canal Proximal Muscle Weakness Limb Girdle Distribution
  • Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome

    notochordal canal syndrome 4 Cases 794 Saethre-Chotzen syndrome 3.0 BP * 300493 Sagliker syndrome 60 Cases 140969 Saldino-Mainzer syndrome 10 Cases 370938 Salt-and-pepper[azkurs.org] Rotor syndrome 50 Cases 83616 Rubella panencephalitis 20 Cases 783 Rubinstein-Taybi syndrome 0.7 BP * 397927 Sacral agenesis-abnormal ossification of the vertebral bodies-persistent[azkurs.org]

    Missing: Proximal Muscle Weakness Limb Girdle Distribution Severe Disability within 20 Years of Onset
  • Duchenne Muscular Dystrophy

    Many individuals with limb-girdle MD become severely disabled within 20 years of disease onset.[web.archive.org]

    Missing: Persistent Notochordal Canal Proximal Muscle Weakness Limb Girdle Distribution
  • Tonsillar Abscess

    Severe disability is observed within 20 years of onset. {ECO:0000269 PubMed:12145747}.[genecards.org]

    Missing: Persistent Notochordal Canal Proximal Muscle Weakness Limb Girdle Distribution