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703 Possible Causes for Neonatal Hypotonia, Nystagmus

  • Down Syndrome

    Frequently the first feature noticed is hypotonia. Neonatal features of Down's syndrome General: Hyperflexibility. Muscular hypotonia.[] Nystagmus was related to myopia and esotropia, and to heart disease and heart operations.[] Motor control and hypotonia Neonates with DS present with muscle hypotonia and many individuals with DS demonstrate some form of motor impairment, often described as clumsiness[]

  • Dysequilibrium Syndrome

    […] extensor plantar reflexes, distal muscle wasting, a distal sensorimotor neuropathy, a distal sensorimotor neuropathy predominant in the legs, and horizontal gaze-evoked nystagmus[]

  • Oculocerebrorenal Syndrome

    Neonatal hypotonia can contribute to feeding difficulties, problems with breathing, and delayed development of motor skills (i.e. sitting, standing, and walking).[] Despite this, visual acuity results will only rarely be better than 20/70, and nystagmus is likely.[] -ˌser-ə-brō- \ : a rare human developmental disorder that is inherited as an X-linked recessive trait and that is marked by congenital cataracts, glaucoma, and abnormal nystagmus[]

  • Pelizaeus-Merzbacher Disease

    Abstract Two brothers with profound neonatal hypotonia and hyporeflexia and electrodiagnostic testing consistent with lower motor neuron pathology were found to have a leukodystrophy[] […] in two patients in whom the waveform of the nystagmus was not obvious on inspection.[] In severe cases, the neonatal hypotonia may resemble spinal muscular atrophy but over 90% of cases develop spasticity, although possibly not until the second year of life.[]

  • Congenital Muscular Dystrophy

    Other peculiarities were: ichthyosis-like skin changes (n   11), increased serum CK levels (n   12), microcephaly (n   6), dysmorphic facial features (n   7), neonatal hypotonia[] […] associated MEB disease include increased pressure within the eyes (infantile glaucoma), clouding of the lenses of the eyes (cataracts), rapid, involuntary eye movements (nystagmus[] Neonatal hypotonia: a challenge to reach the diagnosis As previously mentioned, the causes of the neonatal hypotonia are several and to recognize the events that have provoked[]

  • Albinism

    Angelman syndrome is a complex developmental disorder that includes developmental delay and severe mental retardation, microcephaly, neonatal hypotonia, ataxic movements,[] […] correct for the nystagmus.[] PURPOSE: Infantile nystagmus syndrome (INS) is often associated with abnormalities of axonal outgrowth and connectivity.[]

  • Refsum Disease

    hypotonia, developmental delay, sensorineural deafness, retinopathy, no dysmorphic features, leukodystrophy at age 2 to 3 yr Treatment: Not established D-Bifunctional protein[] IRD patients present with multiple clinical manifestations, including: retinitis pigmentosa; nystagmus; sensorineural hearing loss; mental and developmental delays; neuromotor[] Other symptoms may include rapid, jerky eye movements (nystagmus), floppy muscle tone (hypotonia) and lack of muscle coordination (ataxia), mental and growth retardation,[]

  • Olivopontocerebellar Atrophy

    Abstract Clinical and pathological findings are reported in two siblings who presented in the neonatal period with failure to thrive, hypotonia, pericardial effusions, limitation[] There was no pathologic nystagmus or saccadic dysmetria.[] Abstract Two brothers presented with olivopontocerebellar atrophy of neonatal onset.[]

  • Bilirubin Encephalopathy

    Characteristically, a progression of three distinct clinical phases was observed in infants with kernicterus during the neonatal period.[] […] disorders - athetoid cerebral palsy and or dystonia, 60% have severe motor disability (unable to walk). auditory dysfunction - auditory neuropathy (ANSD) oculomotor impairments (nystagmus[] […] present these developmental issues: Movement/motor disorders (dystonia and/or athetoid cerebral palsy) Hearing loss (auditory neuropathy) Eye/vision deficits ( strabismus, nystagmus[]

  • Hereditary Cerebellar Degeneration

    […] the cases reported by Bouchard had a horizontal nystagmus and occasionally a more irregular vertical nystagmus.[] […] or early infantile period with static ataxia and associated motor disability, muscular hypotonia, or impaired development (On-line Table 2).[] […] positional down-beat nystagmus).[]

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