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516 Possible Causes for Delayed Myelination, Muscle Hypotonia

  • Wolf Hirschhorn Syndrome

    Cranial magnetic resonance imaging (MRI) showed hypoplastic corpus callosum, delayed myelinization, and frontal and occipital lobe atrophies.[] Generalized muscle hypotonia was observed at birth.[] It is characterized by mental retardation, microcephaly, seizures, muscle hypotonia, a distinctive facial appearance with prominent forehead and wide set eyes, growth failure[]

  • Zellweger Syndrome

    […] glia only in the internal capsule may have been related to delayed myelination.[] The mitochondrial myopathy thereby induced allows a better understanding of general muscle hypotonia, one of the leading symptoms of this disorder.[] RCDP Diffuse cerebral/cerebellar atrophy, ventricular enlargement, delayed myelination, dysmyelination, decreased choline/creatine ratio and increased levels of mobile lipids[]

  • Aspartylglucosaminuria

    Thus aspartylglucosaminuria is primarily a gray-matter disease also affecting white matter by delaying myelination.[] Additional musculoskeletal (thickening of the ribs and skull, lordosis, vertebral dysplasia, contractures in fingers and elbows, a knock knee, muscle atrophy and hypotonia[] This is consistent with previous magnetic resonance imaging findings in the brains of aspartylglucosaminuria patients, revealing delayed myelination in childhood.[]

  • Adenylosuccinate Lyase Deficiency

    In all cases lack of myelination or of delayed myelination of cerebral white matter was seen. Additionally cerebral and cerebellar atrophy was observed.[] Rarely, patients display only mild psychomotor retardation or profound muscle hypotonia.[] , delayed myelination, anomalies of the white matter, and lissencephaly.[]

  • Maple Syrup Urine Disease

    Cranial magnetic resonance imaging showed prominent diffuse CSF spaces, delayed myelin maturation and symmetrical signal abnormality within the globi pallidi, midbrain, dorsal[] […] rigidity) and hypotonia (muscle limpness) high-pitched cry Signs of intermediate and thiamine-response MSUD include: seizures neurological deficiencies developmental delays[] Signs and symptoms of Maple Syrup Urine Disease are: Poor feeding, lack of energy (lethargy) Vomiting Poor muscle tone (hypotonia) Developmental delay Backward arching of[]

  • Congenital Muscular Dystrophy

    However, the issue of whether the radiological findings of white-matter lesions represent delayed myelination, demyelination or other problems remains controversial.[] Congenital muscular dystrophy (CMD) comprises a heterogeneous group of disorders present at birth with muscle weakness, hypotonia and contractures.[] myelination. [3] Various degrees of ventriculomegaly and hypoplasia of the pons can be seen sometimes. [3] , [4] Cerebellar polymicrogyria depicted as disorganized cerebellar[]

  • Pyruvate Carboxylase Deficiency

    MRI changes include white matter changes, periventricular cysts, delayed myelination, and cerebral atrophy.[] They experience neurological problems including weak muscle tone (hypotonia), abnormal movements, seizures, and coma.[] Liver failure, decreased muscle tone (hypotonia), intellectual disability, abnormal eye movements, irregular signs and reflexes due to damage of upper motor neurons (pyramidal[]

  • Propionic Acidemia

    Magnetic resonance imaging (MRI) of the brain in all patients revealed delayed myelination and some cerebral atrophy.[] Clinical presentation was with acute aphasia, generalized hypotonia, and muscle weakness.[] MRI in the infan-tile form shows delayed myelination or lack of normal myelination in the thalami, brainstem, and cerebellum [22].[]

  • Rubinstein-Taybi Syndrome

    Seven of 10 patients in whom brain imaging was performed had structural abnormalities, including Chiari malformation type 1, thinning of the corpus callosum, and delayed myelination[] In addition, there may be diminished muscle tone (hypotonia), abnormally exaggerated reflexes (hyperreflexia), a stiff, unsteady gait, infrequent bowel movements (constipation[] […] iliac wings 0002869 Flexion contracture 0001371 Frontal bossing 0002007 Frontal upsweep of hair Cowlick Frontal Cowlick Upswept frontal hair [ more ] 0002236 Generalized hypotonia[]

  • Pitt-Hopkins Syndrome

    While a cerebral MRI-scan showed markedly delayed myelination and ventriculomegaly in the 1-year-old PTHS-patient, no structural cerebral anomalies including no white matter[] Low muscle tone (hypotonia). Although most children with PTHS do learn to walk around the age of 4 to 6 many walk with a wide, unsteady gait.[] Infants with Pitt-Hopkins syndrome may have diminished muscle tone (hypotonia) and appear abnormally “floppy.”[]

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