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545 Possible Causes for Hypomyelination, Spastic Gait

  • Pelizaeus-Merzbacher Disease

    Hypomyelinating leukoencephalopathy is a heterogeneous disorder caused by mutations in several-different genes.[ncbi.nlm.nih.gov] The disease spectrum for Pelizaeus-Merzbacher disease and spastic paraplegia type 2 is extraordinarily broad, ranging from a spastic gait in the pure form of spastic paraplegia[ncbi.nlm.nih.gov] […] paraplegia 2 (SPG2; see this term), a disorder primarily characterized by spastic gait in its pure form.[orpha.net]

  • 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] SPG4 is characterized by insidiously progressive bilateral lower-limb gait spasticity.[centogene.com] 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]

  • Cockayne Syndrome

    OBJECTIVE: Cockayne syndrome (CS) is a rare disorder characterized by severe brain atrophy, white matter (WM) hypomyelination and basal ganglia calcifications.[ncbi.nlm.nih.gov] Spasticity • Rounded back • Deep set eyes, small slender straight nose • Dental caries (cavities) • Retinopathy and/or cataracts • Hearing loss • Poor circulation (cold[flipper.diff.org] Changes were compatible with diffuse white matter hypomyelination. Basal ganglia calcification was present in both, marked cerebellar atrophy in the older patient.[ncbi.nlm.nih.gov]

  • Autosomal Dominant Spastic Paraplegia Type 42

    Brain MRI shows cerebral and cerebellar atrophy and hypomyelination Cellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein (Probable) Tissue specificity[slc.bioparadigms.org] […] by slowly progressive spastic paraplegia of lower extremities with an age of onset ranging from childhood to adulthood and patients presenting with spastic gait, increased[orpha.net] […] 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]

  • 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] SPG4 is characterized by insidiously progressive bilateral lower-limb gait spasticity.[centogene.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]

  • X-Linked 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] There are a number of references which give descriptions of a spastic gait - here's part of one I like: When a person has a spastic gait, his legs are typically weak and abnormally[hspjourney.blogspot.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]

  • 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] Table 134-1 Genetic Types of HSP (updated from Fink JK, 2011) View Table Favorite Table Download (.pdf) Table 134-1 Genetic Types of HSP (updated from Fink JK, 2011) Spastic[mhmedical.com] 0002061 Optic atrophy 0000648 Paraplegia Leg paralysis 0010550 Progressive Worsens with time 0003676 Spastic gait Spastic walk 0002064 Urinary incontinence Loss of bladder[rarediseases.info.nih.gov]

  • Demyelinating Disease

    DVM, DACVIM, Professor and Hospital Director, Center for Veterinary Health Sciences, Oklahoma State University Demyelinating Disorders Overview of Demyelinating Disorders Hypomyelination[msdvetmanual.com] We describe herein the case of a 57 year old man who, over the last five years, has presented ataxic and spastic gait on the right side, a reduction in fine motor movement[ncbi.nlm.nih.gov] , gait and balance disturbance).[symptoma.com]

  • Autosomal Recessive Spastic Paraplegia Type 49

    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] SPG4 is characterized by insidiously progressive bilateral lower-limb gait spasticity.[centogene.com] […] leukodystrophy; hereditary lymphedema HEXA Hexosaminidase A deficiency HSPD1 SPG13 MitCHAP-60 disease (hypomyelinating leukodystrophy) IBA57 * SPG74 KDM5C MRXSCJ X-linked[invitae.com]

  • Autosomal Recessive Spastic Paraplegia Type 20

    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] They all had some difficulties in walking, with clumsy, mildly spastic gait.[cags.org.ae] Hereditary spastic paraplegia ( HSP ) is a group of inherited diseases whose main feature is a progressive gait disorder.[en.wikipedia.org]

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