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200 Possible Causes for Delayed Acquisition of Motor Skills, Mild Rib Sclerosis, Mutation in the PRX Gene

  • 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 MPZ, [5] PMP22, [6] PRX, [7] and EGR2 [8] genes.[en.wikipedia.org] […] 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]

    Missing: Mild Rib Sclerosis
  • Hereditary Areflexic Dystasia

    Type 4F CMT type 4F is a severe form of recessive CMT that has been defined in a large Lebanese family with mutations in the PRX gene on Chromosome 19.[cmtausa.org] Autosomal recessive DSS can be caused by mutations in the PRX gene on chromosome arm 19q13.13-2, which is regulated by EGR2.[emedicine.medscape.com] Type 4J CMT4J is caused by mutations in a gene called FIG4, which is located on chromosome 6. This is a rare form of CMT that wasn’t identified until 2007.[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 PRX 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 PRX 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 PRX 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 PRX 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 PRX 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 PRX 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 PRX Gene
  • 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 Mutation in the PRX Gene