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439 Possible Causes for Cataracts Usually Congenital, Delayed Acquisition of Motor Skills

  • Hypomyelinating Leukodystrophy Type 5

    The infant may also need to be treated for the inherited disorder that is causing the cataracts. Removing a congenital cataract is usually a safe, effective procedure.[] Hypomyelination and congenital cataract (HCC) is usually characterized by bilateral congenital cataracts and normal psychomotor development in the first year of life, followed[] […] typical peripheral nervous system involvement hypomyelination with congenital cataract 4H syndrome : hypomyelination, hypogonadotropic hypogonadism, and hypodontia Cockayne[]

  • Muscular Dystrophy-Dystroglycanopathy Type C2

    Walker-Warburg Syndrome Clinical Characteristics Ocular Features: The eyes are usually small and contain either retinal dysplasia or a congenital retinal detachment.[] Colobomas, PHPV, cataracts, glaucoma, buphthalmos, anterior chamber dysgenesis, optic atrophy, and optic nerve hypoplasia have also been reported.[]

  • 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[] […] 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[] Occasionally there could be vision problems, hearing loss and delay in acquisition of motor skills in children. Treatment for this condition is symptomatic.[]

    Missing: Cataracts Usually Congenital
  • 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[…][]

    Missing: Cataracts Usually Congenital
  • Mowat-Wilson Syndrome

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

    Missing: Cataracts Usually Congenital
  • 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[] […] of gross motor skills.[] Barth syndrome is also associated with abnormally diminished muscle tone (hypotonia ), and muscle weakness (skeletal myopathy), that often leads to delays in the acquisition[]

    Missing: Cataracts Usually Congenital
  • Congenital Muscular Dystrophy

    Clinical Characteristics Ocular Features: Cataracts have been diagnosed by 6 months of age and may be congenital in origin. Several patients have had strabismus.[] 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[] Serum CK usually is elevated. Muscle immunohistochemistry reveals a severe depletion of a-dystroglycan and a secondary reduction in merosin labeling.[]

  • 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.[] Poor or decreased motor abilities, delay or arrest of motor milestones, and joint or spinal deformities are often the presenting features of CMD.[]

    Missing: Cataracts Usually Congenital
  • 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[…][]

    Missing: Cataracts Usually Congenital
  • 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[…][]

    Missing: Cataracts Usually Congenital

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