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115 Possible Causes for Diffuse Hypomyelination, Hyperreflexia

  • Hypomyelinating Leukodystrophy Type 5

    Brain magnetic resonance imaging show the combination of a diffuse hypomyelination with superimposed periventricular white matter signal abnormalities. this study describes[ncbi.nlm.nih.gov] In the intermediate stage (approximately 2–10 years), the white matter is diffusely abnormal with a background of diffuse hypomyelination ( Fig 2 ), in most patients associated[ajnr.org] Neuroimaging studies demonstrated a diffuse supratentorial hypomyelination, with in some patients, additional areas of more prominent signal change in the frontal region.[ncbi.nlm.nih.gov]

  • Autosomal Recessive Spastic Ataxia with Leukoencephalopathy

    Related phenotypes are hyperreflexia and cerebellar hypoplasia[malacards.org] System Hypomyelination Disease include: Childhood Ataxia with diffuse CNS Hypomyelination (CACH) Childhood Ataxia with diffuse Central Nervous System Hypomyelination Leukodystrophy[australasianleukodystrophyfoundation.com] Definition A neurologic disorder characterized by cerebellar ataxia, ataxic gait, spasticity, and hyperreflexia.[uniprot.org]

  • X-Linked Spastic Paraplegia Type 2

    People with this condition can also experience exaggerated reflexes (hyperreflexia), ankle spasms, high-arched feet (pes cavus), and reduced bladder control.[icdlist.com] Brain magnetic resonance imaging (MRI) reveals patchy or diffuse hypomyelination on T2-weighted images. Patients with pure SPG2 can have very subtle T2 hyperintensity.[rarediseases.info.nih.gov] SPG2 is characterized by spastic gait and hyperreflexia.[malacards.org]

  • Spastic Paraplegia

    This case showed spasticity and hyperreflexia with pathological reflexes and ankle clonus as well as muscle weakness in all extremities.[ncbi.nlm.nih.gov] In SPG2, white matter abnormalities are also typical; they resemble (but to a lesser extent) the diffuse hypomyelination found in the allelic Pelizaeus-Merzbacher disease[scielo.br] On neurological examination, he showed hyperreflexia, spasticity, and weakness in the lower extremities and bilateral Babinski reflexes.[ncbi.nlm.nih.gov]

  • X-Linked Spastic Paraplegia Type 34

    Hyperreflexia, extensor plantar response and increased muscle tone are the recognized UMN signs where as the weakness, muscle wasting, hyporeflexia, muscle cramps, and fasciculations[explainmedicine.com] […] with Atrophy 519 Hereditary Diffuse Leukoencephalo 526 Cerebral Amyloid Angiopathy 535 Cerebral Autosomal Dominant 541 Cerebral Autosomal Recessive 549 Pigmentary Orthochromatic[books.google.com] […] most notable at the iliopsoas, tibialis anterior, hamstring muscles  difficulty in walking, decreased vibratory sense at the ankles, and paresthesia  In lower extremities hyperreflexia[slideshare.net]

  • Autosomal Recessive Spastic Paraplegia Type 20

    Other characteristics can include exaggerated reflexes (hyperreflexia) in the lower limbs, uncontrollable movements of the limbs (choreoathetosis), skeletal abnormalities,[ghr.nlm.nih.gov] In SPG2, white matter abnormalities are also typical; they resemble (but to a lesser extent) the diffuse hypomyelination found in the allelic Pelizaeus-Merzbacher disease[scielo.br] […] birth weight, relative macrocephaly, triangular face shape, poor feeding Early infancy / childhood: delayed walking, delayed speech, swallowing difficulties Pyramidal signs: hyperreflexia[ncbi.nlm.nih.gov]

  • Severe Neonatal-Onset Encephalopathy with Microcephaly

    Hyperreflexia MedGen UID: 57738 • Concept ID: C0151889 • Finding Autonomic nervous system overreaction to stimuli, most commonly after spinal cord injury at a T-5 level and[ncbi.nlm.nih.gov] […] with Atrophy 519 Hereditary Diffuse Leukoencephalo 526 Cerebral Amyloid Angiopathy 535 Cerebral Autosomal Dominant 541 Cerebral Autosomal Recessive 549 Pigmentary Orthochromatic[books.google.com] Spasticity and hyperreflexia are often present but some newborn infants are hypotonic.[disorders.eyes.arizona.edu]

  • Autosomal Dominant Spastic Paraplegia Type 29

    […] and phenotypes: Commonly - More than 50% cases Genetic anticipation Not very common - Between 30% and 50% cases Neonatal hyperbilirubinemia Commonly - More than 50% cases Hyperreflexia[mendelian.co] MRI in patients with H-ABC reveals cerebellar and striatal atrophy with diffuse hypomyelinization.[nanopdf.com] Related phenotypes are lower limb hyperreflexia and babinski sign[malacards.org]

  • Autosomal Recessive Spastic Paraplegia Type 18

    People with this condition can also experience exaggerated reflexes (hyperreflexia), a decreased ability to feel vibrations, muscle wasting (amyotrophy), and reduced bladder[ghr.nlm.nih.gov] In SPG2, white matter abnormalities are also typical; they resemble (but to a lesser extent) the diffuse hypomyelination found in the allelic Pelizaeus-Merzbacher disease[scielo.br] […] most notable at the iliopsoas, tibialis anterior, hamstring muscles  difficulty in walking, decreased vibratory sense at the ankles, and paresthesia  In lower extremities hyperreflexia[slideshare.net]

  • Autosomal Dominant Spastic Paraplegia Type 10

    […] paraplegia type 10 Disease definition A rare type of hereditary spastic paraplegia that can present as either a pure form of spastic paraplegia with lower limb spasticity, hyperreflexia[orpha.net] In SPG2, white matter abnormalities are also typical; they resemble (but to a lesser extent) the diffuse hypomyelination found in the allelic Pelizaeus-Merzbacher disease[scielo.br] […] spastic paraplegia type 10 (SPG10) is a rare type of hereditary spastic paraplegia that can present as either a pure form of spastic paraplegia with lower limb spasticity, hyperreflexia[orpha.net]

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