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193 Possible Causes for Delayed Acquisition of Motor Skills, Mild Rib Sclerosis, Mutation in the Early Growth Response Protein 2 Gene

  • Déjerine-Sottas Disease

    These include genes encoding peripheral myelin protein 22 (PMP22), myelin protein zero (MPZ), periaxin (PRX), and early growth response 2 (EGR2).[humpath.com] 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] It is caused by several mutations in the myelin protein zero gene, the peripheral myelin protein gene, the periaxin gene, and the early growth response gene.[karger.com]

    Missing: Mild Rib Sclerosis
  • Hereditary Areflexic Dystasia

    Type 1D CMT Type 1D is caused by mutations in a gene on chromosome 10 called EGR2, which codes for the early growth response protein 2.[cmtausa.org]

    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: Mutation in the Early Growth Response Protein 2 Gene
  • Infantile-Onset Ascending Hereditary Spastic Paralysis

    Abstract We studied 15 patients, from 10 families, who presented with severe spastic paralysis with an infantile onset and an ascending progression. Spastic paraplegia began during the first 2 years of life and extended to upper limbs within the next few years. During the first decade of life, the disease progressed[…][ncbi.nlm.nih.gov]

    Missing: Mild Rib Sclerosis Mutation in the Early Growth Response Protein 2 Gene
  • 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 Mutation in the Early Growth Response Protein 2 Gene
  • 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 Mutation in the Early Growth Response Protein 2 Gene
  • 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: Mild Rib Sclerosis Mutation in the Early Growth Response Protein 2 Gene
  • 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 Mutation in the Early Growth Response Protein 2 Gene
  • 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 Mutation in the Early Growth Response Protein 2 Gene
  • Muscular Dystrophy-Dystroglycanopathy Type C1

    Limb-girdle muscular dystrophy autosomal recessive type 2K (POMT1) DNA Test Leave Message Reporting Time: 5 Week Test Cost: 30000.00 /- Rs Sample Type: EDTA blood or DNA Limb-girdle muscular dystrophy autosomal recessive type 2K (POMT1) Test Description Limb-girdle muscular dystrophy autosomal recessive type[…][dnalabsindia.com]

    Missing: Mild Rib Sclerosis Mutation in the Early Growth Response Protein 2 Gene