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372 Possible Causes for Delayed Myelination, Muscle Hypotonia

  • 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.[]

  • Pelizaeus-Merzbacher Disease

    CONCLUSIONS: This study showed that delayed auditory pathway myelination is common in Pelizaeus-Merzbacher disease (PMD), but this delay does not necessarily indicate poor[] 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.[]

  • 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 with muscle weakness, hypotonia and contractures present at birth.[] myelination. [3] Various degrees of ventriculomegaly and hypoplasia of the pons can be seen sometimes. [3], [4] Cerebellar polymicrogyria depicted as disorganized cerebellar[]

  • Early Infantile Epileptic Encephalopathy

    myelination in the white matter.[] Other signs and symptoms may include intellectual disability, reduced muscle tone ( hypotonia ), hypsarrhythmia (an irregular pattern seen on EEG ), dyskinesia (involuntary[] Brain MRI showed delayed myelination in 4 patients and cerebellar atrophy in 1.[]

  • Neuhauser Syndrome

    Megolocornea: mental retardation syndrome with delayed myelination. Am J Med Genet 1991;38:132-133. [ Links ] 7. Santolaya JM, Grijalbo A, Delgado A, Erdozain G.[] Abnormally diminished muscle tone (hypotonia) and craniofacial abnormalities may be apparent at birth (congenital).[] Megolocornea (sic): mental retardation syndrome with delayed myelination. (Letter) Am. J. Med. Genet. 38: 132-133, 1991.[]

  • Oculocerebrorenal Syndrome

    Brain imaging reveals brain atrophy, delayed myelination, pachygyrias, hydrocephalus as well as gliotic lesions suggestive of periventricular leukomalacia.[] - Areflexia, Hypotonia Neurological - Seizures Ophthalmic - Congenital cataracts, Glaucoma Psychiatric - Intellectual impairment, Mental retardation Skeletal - Vitamin D[] This form of Dent disease is characterized by chronic kidney problems; some affected individuals also have mild intellectual disability, weak muscle tone (hypotonia), and[]

  • Leigh's Disease

    myelination.[] 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[] Hypotonia (low muscle tone and strength), dystonia (involuntary, sustained muscle contraction), and ataxia (lack of control over movement) are often seen in people with Leigh[]

  • Methylmalonic Acidemia

    delay (3).[] 8), muscle hypotonia (n 8), recurrent vomiting (n 4), tremor (n 2), ataxia (n 2), and abnormal posture (n 1).The onset age of seizure ranged from 8 days to 11 years.[] These abnormalities include delayed myelination, immature gyral pattern and periventricular white matter lesions.[]

  • Nonketotic Hyperglycinemia

    Magnetic resonance (MR) imaging revealed progressive atrophy, callosal thinning, and delayed myelination.[] Affected infants experience a progressive lack of energy (lethargy), feeding difficulties, weak muscle tone (hypotonia), abnormal jerking movements, and life-threatening problems[] Serial brain magnetic resonance imaging showed delayed myelination. At 12 months of age, physical examination findings and growth were normal except for hypotonia.[]

  • Methylmalonic Aciduria Type cblA

    delay (3).[] hypotonia, hepatomegaly and coma.[] These abnormalities include delayed myelination, immature gyral pattern and periventricular white matter lesions.[]

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