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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.[ncbi.nlm.nih.gov] The difficulties with movement can include spasticity (stiff or rigid muscles), hypotonia (floppiness), choreoathetosis (extra movements) and ataxia (unsteadiness/loss of[contact.org.uk] hypotonia appears alongside and apart from neurological signs we can mention scoliosis as well.[kattivatrends.com]

  • Déjerine-Sottas Disease

    , consistent with congenital hypomyelination neuropathy (CHN).[ncbi.nlm.nih.gov] […] 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[emedicine.medscape.com] They include Charcot-Marie-Tooth disease, Dejerine-Sottas disease, congenital hypomyelinating neuropathy and hereditary neuropathy with liability to pressure palsy.[ncbi.nlm.nih.gov]

  • Pyruvate Carboxylase Deficiency

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

  • Immunodeficiency Type 23

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

  • Congenital Muscular Dystrophy

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

  • Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia

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

  • 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[medical-dictionary.thefreedictionary.com] Learning problems (intellectual disabilities), developmental delay, and low muscle tone (hypotonia) are also usually seen in children who have this condition.[diseaseinfosearch.org] The full phenotypic spectrum is not yet understood and might include spasticity, intellectual disability, hypomyelination, and pontocerebellar atrophy. EIEE6 – SCN1A.[euroepinomics.wordpress.com]

  • 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[blueprintgenetics.com] […] tone (hypotonia), and muscle wasting.[natera.com] […] leukodystrophy; hereditary lymphedema HEXA Hexosaminidase A deficiency HSPD1 SPG13 MitCHAP-60 disease (hypomyelinating leukodystrophy) IBA57 * SPG74 KDM5C MRXSCJ X-linked[invitae.com]

  • Leigh's Disease

    The findings suggest that there is hypomyelination of peripheral nerves leading eventually to demyelination.[ncbi.nlm.nih.gov] 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[ncbi.nlm.nih.gov] At 14 months, his developmental milestones slowed and muscle hypotonia appeared.[ajnr.org]

  • 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[ncbi.nlm.nih.gov] Children who are born with lissencephaly suffer from severe motor impairment, seizures, muscle spasticity, muscle hypotonia, facial abnormalities, difficulty swallowing, abnormalities[disabilitybenefitscenter.org] In general additional features encountered include 5 : hypomyelination of white matter hydrocephalus posterior cephalocele abnormal brainstem fused colliculi small pons dysmorphic[radiopaedia.org]

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