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390 Possible Causes for Babinski Sign, Hypomyelination

  • Hypomyelination - Congenital Cataract

    […] and hypomyelination of the central and peripheral nervous system.[ncbi.nlm.nih.gov] […] distinction of HCC from other forms of hypomyelinating leukoencephalopathies.[ncbi.nlm.nih.gov] Hypomyelination and congenital cataract (HCC) is a rare autosomal recessive white matter disorder characterized by congenital cataract, progressive neurologic impairment,[ncbi.nlm.nih.gov]

  • Autosomal Recessive Spastic Paraplegia Type 44

    Defects in GJC2 are the cause of leukodystrophy hypomyelinating type 2 (HLD2); also known as Pelizaeus-Merzbacher-like disease autosomal recessive type 1.[mybiosource.com] There was hyperreflexia in both upper and lower limbs and spastic paraplegia with a bilateral Babinski sign.[journals.plos.org] Involvement in disease Defects in GJC2 are the cause of leukodystrophy hypomyelinating type 2 (HLD2) [MIM:608804]; also known as Pelizaeus-Merzbacher-like disease autosomal[abcam.com]

  • Autosomal Dominant Spastic Paraplegia Type 42

    […] hereditary motor neuronopathy type 5B (HMN5B) Encephalopathy, progressive, with or without lipodystrophy (PELD) Hereditary sensory neuropathy type 1D (HSN1D) Leukodystrophy, hypomyelinating[ncbi.nlm.nih.gov] Affiliated tissues include spinal cord and skeletal muscle, and related phenotypes are babinski sign and degeneration of the lateral corticospinal tracts Disease Ontology[malacards.org] Brain MRI shows cerebral and cerebellar atrophy and hypomyelination Cellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein (Probable) Tissue specificity[slc.bioparadigms.org]

  • Distal Hereditary Motor Neuropathy Type 1

    […] neuropathy (with hypotonia at birth) and congenital hypomyelination neuropathy, life expectancy may be only a few months Essential features Atrophic myofibers with myofiber[pathologyoutlines.com] Charcoat (left) & Babinski at the Salpêtrière clinic 22.[slideshare.net] DI-CMTB AD 19p12–p13.2 DYN2 DI-CMTC AD 1p34–p35 YARS RI-CMT AR 1p36.31 PLEKHG5 CMT3 (Dejerine–Sottas disease, congenital hypomyelinating neuropathy) AD 17p11.2 PMP22 AD 1q21[mhmedical.com]

  • X-Linked Spastic Paraplegia Type 34

    Myotonic Dystrophy Type I 469 Myotonic Dystrophy Type 2 473 Xlinked CharcotMarieTooth 478 Oculodentodigital Dysplasia 479 AicardiGoutières Syndrome 496 Leukoencephalopathy 505 Hypomyelination[books.google.com] Hoffmann's sign and Babinski's sign also can be seen.[explainmedicine.com] 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]

  • Spastic Paraplegia Type 2

    Proteolipid protein 1 gene (PLP1) mutations result in a continuum of neurological findings characterized by X-linked hypomyelinating leukodystrophies of the central nervous[ncbi.nlm.nih.gov] Other common symptoms of HSP are urinary urgency and frequency, hyperactive reflexes, difficulty with balance, clonus, Babinski’s sign, diminished vibration sense in the feet[sp-foundationorg.presencehost.net] Brain magnetic resonance imaging (MRI) reveals patchy or diffuse hypomyelination on T2-weighted images. Patients with pure SPG2 can have very subtle T2 hyperintensity.[malacards.org]

  • Autosomal Recessive Spastic Paraplegia Type 46

    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] Showing of 36 80%-99% of people have these symptoms Babinski sign 0003487 Impaired vibratory sensation Decreased vibration sense Decreased vibratory sense Diminished vibratory[rarediseases.info.nih.gov] There was hyperreflexia in both upper and lower limbs and spastic paraplegia with a bilateral Babinski sign.[journals.plos.org]

  • Infantile-Onset Ascending Hereditary Spastic Paralysis

    […] leukodystrophy with or without oligondontia and/or hypogonadism Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome Hypomyelination with atrophy of[se-atlas.de] sign 0003487 Dysphagia Poor swallowing Swallowing difficulties Swallowing difficulty [ more ] 0002015 Infantile onset Onset in first year of life Onset in infancy [ more[rarediseases.info.nih.gov] signs.[neuropathology-web.org]

  • Autosomal Recessive Spastic Paraplegia Type 56

    Acetazolamide & Phenytoin Cognition: Impaired Laboratory EEG: Generalized slowing CSF Glucose & Lactate: Low Hypomyelinating Leukodystrophy 6 (HLD6; HABC) Sporadic, ?[neuromuscular.wustl.edu] Affiliated tissues include globus pallidus , and related phenotypes are lower limb hyperreflexia and babinski sign Disease Ontology : 12 A hereditary spastic paraplegia that[malacards.org] There was hyperreflexia in both upper and lower limbs and spastic paraplegia with a bilateral Babinski sign.[journals.plos.org]

  • Autosomal Recessive Spastic Paraplegia Type 35

    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] There was hyperreflexia in both upper and lower limbs and spastic paraplegia with a bilateral Babinski sign.[journals.plos.org] III-1 III-3 Age at examination 63 53 Onset 58 48 Leg spasticity Limb ataxia Thigh muscle atrophy Patellar Tendon Reflex (PTR) Achilles Tendon Reflex (ATR) Babinski sign Vibration[intechopen.com]

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