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87 Possible Causes for Diffuse Hypomyelination, Hyporeflexia

  • Pelizaeus-Merzbacher Disease

    Two brothers with profound neonatal hypotonia and hyporeflexia and electrodiagnostic testing consistent with lower motor neuron pathology were found to have a leukodystrophy[ncbi.nlm.nih.gov] Magnetic resonance imaging (MRI) of the brain revealed diffuse hypomyelination [Figure 1].[annalsofian.org] Magnetic resonance imaging (MRI) of the brain had classical features of diffuse hypomyelination which is characteristic of PMD for this age group.[jpma.org.pk]

  • Congenital Muscular Dystrophy

    Examination revealed generalised hypotonia and hyporeflexia.[ncbi.nlm.nih.gov] Cerebral magnetic resonance imaging revealed diffuse hypomyelination in both cerebral hemispheres; electrophysiological assessment revealed progressive sensorimotor axonal[ncbi.nlm.nih.gov] […] hypoplasia, patchy hypomyelination, and variable callosal hypogenesis and hydrocephalus.[neurologyindia.com]

  • Zellweger Syndrome

    A term male newborn was noted to have severe diffuse hypotonia, hyporeflexia, hepatosplenomegaly, and characteristic abnormal facies of Zellweger syndrome, the diagnosis of[ncbi.nlm.nih.gov] Neuroanatomical sequelae include impaired neuronal migration, diffuse hypomyelination, and sensorineural degeneration.[ncbi.nlm.nih.gov] […] common clinical findings included high forehead, large fontanelle, shallow orbit ridges, micrognathia, upslanting palebral fissures, epicanthal folds, severe hypotonia, hyporeflexia[ncbi.nlm.nih.gov]

  • Multiple Carboxylase Deficiency

    […] with Atrophy 519 Hereditary Diffuse Leukoencephalo 526 Cerebral Amyloid Angiopathy 535 Cerebral Autosomal Dominant 541 Cerebral Autosomal Recessive 549 Pigmentary Orthochromatic[books.google.com] 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]

  • Congenital Myopathy with Excess of Thin Filaments

    Proximal and distal weakness; hyporeflexia. Respiratory failure in severe forms and can be fatal.[sites.google.com] MRI shows diffuse cerebral white matter hypomyelination in T2WI and FLAIR signal in the periventricular white matter and frontal U-fibers.[sites.google.com]

  • Nonketotic Hyperglycinemia

    […] with Atrophy 519 Hereditary Diffuse Leukoencephalo 526 Cerebral Amyloid Angiopathy 535 Cerebral Autosomal Dominant 541 Cerebral Autosomal Recessive 549 Pigmentary Orthochromatic[books.google.com] 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]

  • Autosomal Recessive Spastic Ataxia with Leukoencephalopathy

    […] and resting tremor Rigidity Cognitive impairment Cerebellar atrophy Spinocerebellar ataxia 22 See the list below: Clinical features Slowly progressive Gait and limb ataxia Hyporeflexia[emedicine.medscape.com] System Hypomyelination Disease include: Childhood Ataxia with diffuse CNS Hypomyelination (CACH) Childhood Ataxia with diffuse Central Nervous System Hypomyelination Leukodystrophy[australasianleukodystrophyfoundation.com] Slurred speech Schizophrenia Visual field defect Delayed speech and language development Optic neuropathy Sensory ataxia Episodic ataxia Abnormal chorioretinal morphology Hyporeflexia[mendelian.co]

  • Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia

    , dementia SCA22 (one Chinese family) 1q21-q23 Chinese family, age at onset 10-46, gait ataxia, dysarthria, hyporeflexia, slowly progressive pure cerebellar ataxia and atrophy[bcm.edu] […] central nervous system hypomyelination, (CACH) X-linked AdrenoLeukodystrophy (X-ALD) Zellweger Spectrum: Zellweger Syndrome, Neonatal AdrenoLeukodystrophy, and Infantile[themorganproject.org] 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]

  • Spastic Ataxia with Congenital Miosis

    […] and resting tremor Rigidity Cognitive impairment Cerebellar atrophy Spinocerebellar ataxia 22 See the list below: Clinical features Slowly progressive Gait and limb ataxia Hyporeflexia[emedicine.medscape.com] MRI shows hypomyelination, as evident from the diffusely elevated T2 white-matter signal.[clinicalgate.com] […] cases Global developmental delay Microcephaly Emotional lability Blindness Pes cavus Progressive Dysphagia Dystonia Myoclonus Tongue atrophy Chorea Abnormal pyramidal sign Hyporeflexia[mendelian.co]

  • Adult-Onset Autosomal Recessive Cerebellar Ataxia

    […] and resting tremor Rigidity Cognitive impairment Cerebellar atrophy Spinocerebellar ataxia 22 See the list below: Clinical features Slowly progressive Gait and limb ataxia Hyporeflexia[emedicine.medscape.com] Hypomyelination with congenital cataracts.[ajnr.org] Sensory loss, hyporeflexia: AR ataxias; SPN and SG (“sensory ataxia”); GA; MF; AVED; NS.[practicalneurology.com]

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