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895 Possible Causes for Hypomyelination, Muscle Hypotonia

  • Pelizaeus-Merzbacher Disease

    Hypomyelinating leukoencephalopathy is a heterogeneous disorder caused by mutations in several-different genes.[] The difficulties with movement can include spasticity (stiff or rigid muscles), hypotonia (floppiness), choreoathetosis (extra movements) and ataxia (unsteadiness/loss of[] hypotonia appears alongside and apart from neurological signs we can mention scoliosis as well.[]

  • Déjerine-Sottas Disease

    , consistent with congenital hypomyelination neuropathy (CHN).[] […] wasting, foot and hand deformities 10-20 m/s CMT 4E (EGR2) 10q21; AR Birth Infant hypotonia 9-20 m/s CMT 4G 10q23.2; AR 8-16 years Distal weakness 9-20 m/s CMT 4H 12p11.21[] They include Charcot-Marie-Tooth disease, Dejerine-Sottas disease, congenital hypomyelinating neuropathy and hereditary neuropathy with liability to pressure palsy.[]

  • Pyruvate Carboxylase Deficiency

    Anatomic-pathologic studies revealed periventricular cysts and diffuse hypomyelination. Prenatal diagnosis of a further sibling was performed.[] They experience neurological problems including weak muscle tone ( hypotonia ), abnormal movements, seizures, and coma.[] Hypomyelination, cystic lesions, and gliosis of the cortex or cerebellum with gray matter degeneration or necrotizing encephalopathy occur in some infants.[]

  • Immunodeficiency Type 23

    Specifically, brain hypomyelination resulted in markedly delayed evoked potentials and may have contributed to the neurologic impairment, they added.[] Decreased muscle tone Low muscle tone [ more ] 0001290 Global developmental delay 0001263 High palate Elevated palate Increased palatal height [ more ] 0000218 Hyporeflexia[] Apparent brain hypomyelination resulted in markedly delayed evoked potentials and likely contributed to neurologic abnormalities.[]

  • Congenital Muscular Dystrophy

    CONCLUSIONS: Homozygous truncating mutations in POMK lead to CMD with secondary merosin deficiency, hypomyelination and intellectual disability.[] Congenital muscular dystrophy (CMD) comprises a heterogeneous group of disorders with muscle weakness, hypotonia and contractures present at birth.[] Cerebral magnetic resonance imaging revealed diffuse hypomyelination in both cerebral hemispheres; electrophysiological assessment revealed progressive sensorimotor axonal[]

  • Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia

    Hypomyelination with congenital cataracts.[] Decreased muscle tone Low muscle tone [ more ] 0001290 Hyperreflexia Increased reflexes 0001347 Intention tremor 0002080 Motor delay 0001270 Muscular hypotonia Low or weak[] During early childhood, however, they begin experiencing difficulty coordinating movements (ataxia); very weak muscle tone (hypotonia); involuntary writhing movements of the[]

  • Early Infantile Epileptic Encephalopathy Type 2

    A disorder (OMIM:612164) characterised by neonatal or infantile onset of seizures, suppression-burst pattern on EEG, profound mental retardation, and MRI evidence of hypomyelination[] Learning problems (intellectual disabilities), developmental delay, and low muscle tone (hypotonia) are also usually seen in children who have this condition.[] The full phenotypic spectrum is not yet understood and might include spasticity, intellectual disability, hypomyelination, and pontocerebellar atrophy. EIEE6 – SCN1A.[]

  • Autosomal Recessive Spastic Paraplegia Type 49

    AD/AR 26 57 HACE1 Spastic paraplegia and psychomotor retardation with or without seizures AR 13 13 HSPD1 * Spastic paraplegia, Leukodystrophy, hypomyelinating AD/AR 5 5 IBA57[] […] tone (hypotonia), and muscle wasting.[] […] leukodystrophy; hereditary lymphedema HEXA Hexosaminidase A deficiency HSPD1 SPG13 MitCHAP-60 disease (hypomyelinating leukodystrophy) IBA57 * SPG74 KDM5C MRXSCJ X-linked[]

  • Leigh's Disease

    The findings suggest that there is hypomyelination of peripheral nerves leading eventually to demyelination.[] An 11-month-old boy with muscle hypotonia and neurologic deteriorations had lactic acidosis, pyruvic acidemia and alaninemia due to deficiency of the pyruvate dehydrogenase[] At 14 months, his developmental milestones slowed and muscle hypotonia appeared.[]

  • Lissencephaly

    […] describe an 11-year-old male with severe mental retardation, hypotonia, and arthrogryposis, with both type I lissencephaly and a congenital peripheral neuropathy, probably hypomyelinating[] Children who are born with lissencephaly suffer from severe motor impairment, seizures, muscle spasticity, muscle hypotonia, facial abnormalities, difficulty swallowing, abnormalities[] In general additional features encountered include 5 : hypomyelination of white matter hydrocephalus posterior cephalocele abnormal brainstem fused colliculi small pons dysmorphic[]

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