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104 Possible Causes for Diffuse Hypomyelination, Spastic Gait

  • Pelizaeus-Merzbacher Disease

    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] Magnetic resonance imaging (MRI) of the brain revealed diffuse hypomyelination [Figure 1].[annalsofian.org] […] paraplegia 2 (SPG2; see this term), a disorder primarily characterized by spastic gait in its pure form.[orpha.net]

  • X-Linked Spastic Paraplegia Type 2

    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] 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]

  • Cockayne Syndrome

    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] Brain imaging reveals diffuse hypomyelination of the cerebral white matter, calcifications in the putamen, and vermian atrophy.[orpha.net] 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]

  • X-Linked Spastic Paraplegia Type 34

    SPG4 is characterized by insidiously progressive bilateral lower-limb gait spasticity.[centogene.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] Hereditary spastic paraplegia ( HSP ) is a group of inherited diseases whose main feature is a progressive gait disorder.[en.wikipedia.org]

  • Autosomal Dominant Spastic Paraplegia Type 10

    gait Spastic walk 0002064 Spastic paraplegia 0001258 Urinary bladder sphincter dysfunction 0002839 Urinary incontinence Loss of bladder control 0000020 Showing of 38 Last[rarediseases.info.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] […] paraparetic gait 0031958 Spastic/hyperactive bladder 0005340 Urinary urgency Overactive bladder 0000012 5%-29% of people have these symptoms Ataxia 0001251 Dupuytren contracture[rarediseases.info.nih.gov]

  • Autosomal Dominant Spastic Paraplegia Type 42

    […] 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] 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] HSP3A usually develops in early childhood with more than 80% of affected individuals developing spastic gait before 10 years of age.[flybase.org]

  • Autosomal Recessive Spastic Paraplegia Type 20

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

  • Autosomal Recessive Spastic Paraplegia Type 14

    Spasticity was moderate on gait and at rest with moderate weakness in the proximal LL. Muscle wasting in both legs was evident.[academic.oup.com] 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] SPG4 is characterized by insidiously progressive bilateral lower-limb gait spasticity.[centogene.com]

  • Hereditary Spastic Paraplegia

    For many subjects with an ATL1 mutation, spastic gait begins in early childhood and does not significantly worsen, even over many years; such cases resemble spastic diplegic[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] Characteristic clinical features comprise progressive spastic gait, cognitive impairment, and ataxia.[ncbi.nlm.nih.gov]

  • Autosomal Recessive Spastic Paraplegia Type 44

    SPG4 is characterized by insidiously progressive bilateral lower-limb gait spasticity.[centogene.com] In addition, Gap channels are specialized cell-cell contacts that allow passive diffusion of molecules up to 1 kDa, including nutrients, metabolites (glucose), ions (K , Ca2[cags.org.ae] 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]

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