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253 Possible Causes for Delayed Acquisition of Motor Skills, Increased Serum Creatine Phosphate, Mild Rib Sclerosis

  • 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: Mild Rib Sclerosis
  • Muscular Dystrophy-Dystroglycanopathy Type C1

    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
  • Muscular Dystrophy-Dystroglycanopathy Type C4

    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
  • Limb-Girdle Muscular Dystrophy Type 2Q

    Autosomal recessive limb-girdle muscular dystrophy-17 is characterized by early childhood onset of proximal muscle weakness and atrophy without skin involvement. One family has shown rapid progression of the disorder in adolescence (summary by Gundesli et al., 2010). For a discussion of genetic heterogeneity of[…][ncbi.nlm.nih.gov]

    Missing: Mild Rib Sclerosis
  • Congenital Muscular Dystrophy with Integrin Alpha-7 Deficiency

    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] 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] delay and mild or moderate limb-girdle involvement during childhood.[invitae.com]

    Missing: Mild Rib Sclerosis
  • 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] delay and mild or moderate limb-girdle involvement during childhood.[invitae.com] […] variable within a spectrum and ranges from severe infantile onset hypotonia with feeding and respiratory complications and structural brain and eye abnormalities to moderate motor[invitae.com]

    Missing: Mild Rib Sclerosis
  • Muscular Dystrophy-Dystroglycanopathy Type B6

    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: Mild Rib Sclerosis
  • Muscular Dystrophy-Dystroglycanopathy Type B5

    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: Mild Rib Sclerosis
  • Myopathy and Diabetes mellitus

    We have identified a novel mtDNA mutation in a 29-year-old man with myopathy and diabetes mellitus. This T-- C transition at mtDNA position 14709 alters an evolutionarily conserved nucleotide in the region specifying for the anticodon loop of the mitochondrial tRNA(Glu). The nt-14709 mutation was heteroplasmic but[…][ncbi.nlm.nih.gov]

    Missing: Mild Rib Sclerosis
  • Encephalomyopathic Mitochondrial DNA Depletion Syndrome

    The latest headlines in your inbox The latest headlines in your inbox Critically-ill baby Charlie Gard will today have his life-support machine switched off after his parents lost their final court fight. In one of the most high-profile medical legal cases in recent years, judges ruled against the parents’ wishes to[…][standard.co.uk]

    Missing: Mild Rib Sclerosis