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1,092 Possible Causes for Cerebellar Hypoplasia, Muscle Hypotonia

  • Lissencephaly

    Children who are born with lissencephaly suffer from severe motor impairment, seizures, muscle spasticity, muscle hypotonia, facial abnormalities, difficulty swallowing, abnormalities[] A newborn with a rare type of lissencephaly is reported, characterized by extreme cerebral and cerebellar hypoplasia.[] Infants with ILS may have poor muscle tone (hypotonia) and difficulty feeding, which leads to poor growth overall.[]

  • Dysequilibrium Syndrome

    Clinical features include cerebellar ataxia, early-onset cataracts, mild to severe cognitive impairment, hypotonia, and muscle weakness.[] From Wikipedia, the free encyclopedia Jump to navigation Jump to search VLDLR-associated cerebellar hypoplasia Other names Dysequilibrium syndrome, DES ; Nonprogressive cerebellar[] An autosomal recessive syndrome of nonprogressive cerebellar ataxia and mental retardation is associated with inferior cerebellar hypoplasia and mild cerebral gyral simplification[]

  • Dandy-Walker Syndrome

    […] cerebellar vermis and fourth ventricle.[ 3 ] Infants with DWM may present with early signs such as vomiting, sleepiness, irritability, convulsions, unsteadiness and lack of muscle[] hypoplasia, hydrocephalus, and posterior fossa cyst formation.[] Vermian hypoplasia was present in 36 (88%) cases, while cerebellar hypoplasia was documented in 27 (59%) of these patients.[]

  • Spondylometaphyseal Dysplasia

    hypoplasia.[] […] spondylometaphyseal dysplasia (SSMD) who presented with metaphyseal dysplasia, congenital atrioventricular block, simplified gyral pattern, hypogenesis of corpus callosum, and severe cerebellar[]

  • Congenital Muscular Dystrophy

    Congenital muscular dystrophy (CMD) comprises a heterogeneous group of disorders with muscle weakness, hypotonia and contractures present at birth.[] […] atrophy [4] severe cerebellar hypoplasia, poor muscle tone, delayed in motor milestones, lack of coordination in motive skills, difficulty speaking, involuntary movements[] Hypotonia means decreased muscle tone. Hypotonia is often a sign of a worrisome problem. The condition can affect children or adults.[]

  • Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia

    Decreased muscle tone Low muscle tone [ more ] 0001290 Hyperreflexia Increased reflexes 0001347 Intention tremor 0002080 Motor delay 0001270 Muscular hypotonia Low or weak[] Localized cerebellar hypoplasia. Fetal coronal T2 image ( A ) shows a left-sided cerebellar hematoma ( arrow ).[] During early childhood, however, they begin experiencing difficulty coordinating movements (ataxia); very weak muscle tone (hypotonia); involuntary writhing movements of the[]

  • Congenital Merosin-Positive Muscular Dystrophy

    Three alpha-actinin-3-deficient patients had pure CMD and presented in the newborn period with muscle weakness, hypotonia and arthrogryposis.[] The second child, a 3-year-old ambulant girl with subtle learning problems, had mild cerebellar hypoplasia and a large subarachnoid space when scanned at 16 months.[] , muscle weakness and contractures, associated with dystrophic changes on skeletal muscle biopsy.[]

  • Acrocallosal Syndrome

    Affected individuals may have developmental delay, intellectual disability, slow growth leading to short stature, and weak muscle tone (hypotonia).[] We report on a case of acrocallosal syndrome with dysmorphic features, macrocephaly, duplicated hallux, agenesis of corpus callosum and unilateral cerebellar hypoplasia.[] Decreased muscle tone Low muscle tone [ more ] 0001290 High palate Elevated palate Increased palatal height [ more ] 0000218 Hypoplasia of teeth 0000685 Intellectual disability[]

  • Cerebellotrigeminal Dermal Dysplasia

    Malformations of motor centers in the brain cause reduced muscle strength(Hypotonia).[] Neuroimaging of patients with GLHS shows rhombencephalosynapsis is universally present, with ventriculomegaly/hydrocephalus and cerebellar hypoplasia being common.[] […] strength( Hypotonia ). [8] Eleven of fifteen people in one study showed moderate-to-severe intellectual disability. [6] In cases where it has been noted, head nodding is[]

  • Autosomal Recessive Spinocerebellar Ataxia 18

    Hypotonia is a decrease in the normal resistance offered by muscles to passive manipulation When an affected limb is shaken flapping movements of the hands appear of wider[] Localized cerebellar hypoplasia. Fetal coronal T2 image ( A ) shows a left-sided cerebellar hematoma ( arrow ).[] QT SYNDROME 4 CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED Ataxin-1 (N76/3, N76/8) SPINOCEREBELLAR ATAXIA 1 CASK (K56A/50) MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR[]

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