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162 Possible Causes for Delayed Acquisition of Motor Skills, Mild Rib Sclerosis, Myofibrillar Lesions

  • Classic Multiminicore Myopathy

    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] The designation multiminicore disease 92 used in this chapter reflects the larger number and smaller size of characteristic lesions compared with classic CCD.[clinicalgate.com] 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: Mild Rib Sclerosis
  • Achondroplasia

    Spine radiograph lateral view (b) demonstrating mild platyspondyly and expansion of anterolateral parts of the ribs with “club-shaped” configuration (arrows).[doi.org] The changes involve areas of bone sclerosis intermingled with areas of resorption.[doi.org]

    Missing: Myofibrillar Lesions
  • Multicore Myopathy

    Electron-microscopic examination confirmed the presence of multicore lesions affecting mainly the larger fibres.[milaap.org] Longitudinal sections from glutaldehyde-fixed araldite-embedded material stained with toluidine blue revealed multiple small foci of myofibrillar degeneration (multicores)[milaap.org]

    Missing: Mild Rib Sclerosis
  • Infantile-Onset Ascending Hereditary Spastic Paralysis

    Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a rare, early-onset autosomal recessive motor neuron disease associated with mutations in ALS2. We studied a 17-year-old boy who had features of IAHSP. We also reviewed the current literature on ALS2-related syndromes. Clinical and neuroimaging[…][ncbi.nlm.nih.gov]

    Missing: Mild Rib Sclerosis Myofibrillar Lesions
  • 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: Mild Rib Sclerosis Myofibrillar Lesions
  • 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: Mild Rib Sclerosis Myofibrillar Lesions
  • 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: Mild Rib Sclerosis Myofibrillar Lesions
  • Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2N

    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: Mild Rib Sclerosis Myofibrillar Lesions
  • Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2M

    August 2017 ; 3 (4) Clinical/Scientific Notes Open Access Mateja Smogavec , Jana Zschüntzsch , Wolfram Kress , Julia Mohr , Peter Hellen , Barbara Zoll , Silke Pauli , Jens Schmidt First published July 10, 2017, DOI: Limb-girdle muscular dystrophies (LGMDs) are a heterogeneous group of childhood- or adult-onset[…][ng.neurology.org]

    Missing: Mild Rib Sclerosis Myofibrillar Lesions
  • Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2K

    Chapter First Online: 27 June 2014 Abstract LGMD2K is caused by mutations in the POMT1 gene, encoding for O-mannosyl-transferase-1 protein (Table 16.1), and results from defective glycosylation of alpha-dystroglycan. This disorder represents the mildest end of the phenotypic spectrum of muscular dystrophies[…][link.springer.com]

    Missing: Mild Rib Sclerosis Myofibrillar Lesions