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139 Possible Causes for Diffuse Hypomyelination, Muscle Hypotonia

  • Pelizaeus-Merzbacher Disease

    The difficulties with movement can include spasticity (stiff or rigid muscles), hypotonia (floppiness), choreoathetosis (extra movements) and ataxia (unsteadiness/loss of[] Magnetic resonance imaging (MRI) of the brain revealed diffuse hypomyelination [Figure 1].[] hypotonia appears alongside and apart from neurological signs we can mention scoliosis as well.[]

  • Pyruvate Carboxylase Deficiency

    They experience neurological problems including weak muscle tone ( hypotonia ), abnormal movements, seizures, and coma.[] 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.[]

  • Congenital Muscular Dystrophy

    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[] […] hypoplasia, patchy hypomyelination, and variable callosal hypogenesis and hydrocephalus.[]

  • Zellweger Syndrome

    The mitochondrial myopathy thereby induced allows a better understanding of general muscle hypotonia, one of the leading symptoms of this disorder.[] Neuroanatomical sequelae include impaired neuronal migration, diffuse hypomyelination, and sensorineural degeneration.[] They lack muscle tone (hypotonia), and are often blind or deaf. They have a distinctive facial appearance, an enlarged liver, and may have cysts in their kidneys.[]

  • Hypomyelinating Leukodystrophy Type 5

    Symptoms - Congenital hypomyelination neuropathy Major symptoms may include respiratory difficulty, muscle weakness and incoordination, poor muscle tone (neonatal hypotonia[] Brain magnetic resonance imaging show the combination of a diffuse hypomyelination with superimposed periventricular white matter signal abnormalities. this study describes[] Pyramidal and cerebellar dysfunction, muscle weakness and wasting, dysarthria, truncal hypotonia, intention tremor, and spasticity are evident during the first decade.[]

  • Early Infantile Epileptic Encephalopathy Type 5
  • Propionic Acidemia

    Clinical presentation was with acute aphasia, generalized hypotonia, and muscle weakness.[] Galactosemia may present with diffuse hypomyelination.[] Symptoms may include sleeping longer or more than usual, tiredness, vomiting, poor appetite, and weak muscle tone (hypotonia).[]

  • 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[] […] central nervous system hypomyelination, (CACH) X-linked AdrenoLeukodystrophy (X-ALD) Zellweger Spectrum: Zellweger Syndrome, Neonatal AdrenoLeukodystrophy, and Infantile[] During early childhood, however, they begin experiencing difficulty coordinating movements (ataxia); very weak muscle tone (hypotonia); involuntary writhing movements of the[]

  • Myoadenylate Deaminase Deficiency

    We report a 6-month-old girl with the association of congenital muscle weakness and hypotonia, muscle deficiency of adenosine monophosphate… CONTINUE READING[] MRI shows diffuse cerebral white matter hypomyelination in T2WI and FLAIR signal in the periventricular white matter and frontal U-fibers.[] In rare cases, affected individuals have more severe symptoms including severe muscle weakness, low muscle tone (hypotonia), and muscle wasting (atrophy), but it is unclear[]

  • Helsmoortel-van der Aa Syndrome

    FEATURES OF WOLF-HIRSCHHORN SYNDROME *Short Philtrum *Immunodeficient *Microcephaly (Small Head Size) *Seizures *Muscle Hypotonia *Renal Anomalies *Deafness 30.[] : Diffuse; Progressive Putamen: Small or Absent Head of the caudate: Reduced size Cerebellar atrophy: Especially granular layer Hypomyelinating Leukodystrophy 9 (HLD9) Arginyl-tRNA[] Neurological examination showed mild diffuse muscle hypotonia, hypotrophy, mild diffuse muscle weakness, joint laxity, scapular winging and increase of lumbar lordosis.[]

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