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229 Possible Causes for Delayed Acquisition of Motor Skills, Persistent Notochordal Canal, Proximal Muscle Weakness Limb Girdle Distribution

  • 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: Proximal Muscle Weakness Limb Girdle Distribution
  • Congenital Muscular Dystrophy due to LMNA Mutation

    Since delay of motor skill acquisition may be a presenting symptom of CMD, onset of manifestations before age two years may be a reasonable diagnostic criterion, although[invitae.com] Contracture involvement is not an early sign and is often mild in LGMD1B. 5 The pattern of muscle involvement is also milder in LGMD1B, with a proximal limb-girdle distribution[pc.thejcn.com] delay and mild or moderate limb-girdle involvement during childhood.[invitae.com]

    Missing: Persistent Notochordal Canal
  • Scapuloperoneal Spinal Muscular Atrophy

    notochordal canal syndrome Sacral agenesis syndrome Sacral meningocele-conotruncal heart defects syndrome Sacral regression syndrome SACRAL syndrome Sacrococcygeal teratoma[orpha.net] […] syndrome Sabia hemorrhagic fever Saccharopine dehydrogenase deficiency Saccharopinuria Sack-Barabas syndrome sACL Sacral agenesis-abnormal ossification of the vertebral bodies-persistent[orpha.net]

    Missing: Proximal Muscle Weakness Limb Girdle Distribution
  • Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia

    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
  • Déjerine-Sottas Disease

    acquisition of motor skills Mild loss of hearing Limitation in eye movements Reduced muscle tone This condition can be diagnosed from the symptoms as well as your child’s[kidbones.net] […] in acquisition of motor skills in childhood occasionally, limitation of eye movements or other eye problems occasionally, mild hearing loss How does Dejerine-Sottas Disease[mda.org.au] Occasionally there could be vision problems, hearing loss and delay in acquisition of motor skills in children. Treatment for this condition is symptomatic.[turmericforhealth.com]

    Missing: Persistent Notochordal Canal Proximal Muscle Weakness Limb Girdle Distribution
  • Mowat-Wilson Syndrome

    The mental retardation, usually severe, was constant; the delay in the acquisition of motor skills was more variable (table 2).[doi.org]

    Missing: Persistent Notochordal Canal Proximal Muscle Weakness Limb Girdle Distribution
  • Barth Syndrome

    acquisition of gross motor skills Exercise intolerance Muscle weakness Easily fatigued Chronic or recurrent diarrhea Feeding problems in infancy, "picky eating" in children[verywellhealth.com] […] of gross motor skills.[rarediseases.org] Barth syndrome is also associated with abnormally diminished muscle tone (hypotonia ), and muscle weakness (skeletal myopathy), that often leads to delays in the acquisition[medium.com]

    Missing: Persistent Notochordal Canal Proximal Muscle Weakness Limb Girdle Distribution
  • Rigid Spine Syndrome

    Since delay of motor skill acquisition may be a presenting symptom of CMD, onset of manifestations before age two years may be a reasonable diagnostic criterion.[ncbi.nlm.nih.gov] Poor or decreased motor abilities, delay or arrest of motor milestones, and joint or spinal deformities are often the presenting features of CMD.[ncbi.nlm.nih.gov]

    Missing: Persistent Notochordal Canal Proximal Muscle Weakness Limb Girdle Distribution
  • Muscular Dystrophy-Dystroglycanopathy Type C2

    Primary Outcome Measures : MRI scan for qualitative analysis of muscle involvement [ Time Frame: One MRI scan per subject (exam lasts approximately 60 min.) ] The MRI protocol include T1-weighted brain and whole body examination. Four cross-sectional slices at shoulder, lumbar back, thigh and calf are chosen for[…][clinicaltrials.gov]

    Missing: Persistent Notochordal Canal Proximal Muscle Weakness Limb Girdle Distribution
  • Muscular Dystrophy-Dystroglycanopathy Type C4

    E. Gilbert-Barness, L.A. Barness, P.M. Farrell IOS Press, 06.01.2017 - 960 Seiten The 2nd Edition of Metabolic Diseases provides readers with a completely updated description of the Foundations of Clinical Management, Genetics, and Pathology. A distinguished group of 31 expert authors has contributed 25 chapters as a[…][books.google.de]

    Missing: Persistent Notochordal Canal Proximal Muscle Weakness Limb Girdle Distribution