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877 Possible Causes for Abnormal Gait, Hypomyelination

  • Pelizaeus-Merzbacher Disease

    Hypomyelinating leukoencephalopathy is a heterogeneous disorder caused by mutations in several-different genes.[ncbi.nlm.nih.gov] He developed normally until 5 years of age when he began to deteriorate with scanning speech and gait abnormality. Auditory brainstem responses were normally preserved.[ncbi.nlm.nih.gov] We present the case of a 26 year-old man who developed normally until he began having difficulty walking at age 12.[ncbi.nlm.nih.gov]

  • 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] The abnormal gait is due to contractures of the ankles, knees and hips as well as leg spasticity and ataxia.[symptoma.com] 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]

  • Hereditary Areflexic Dystasia

    In contrast to the findings in younger patients, in their nerve biopsies, myelin thickness tended to be relatively reduced for axon size, indicating remyelination and/or hypomyelination[doi.org] Foot drop causes frequent tripping, and with increasing weakness and attempts at compensation, the affected person develops an abnormal gait.[mda.org] […] can also cause other forms of CMT (Charcot-Marie-Tooth type 1 and 2, Dejerine–Sottas neuropathy, hereditary neuropathy with liability to pressure palsies, and congenital hypomyelinating[rarediseases.info.nih.gov]

  • Peripheral Neuropathy

    Magnetic resonance imaging showed cortical disturbances in addition to profound hypomyelination and cerebellar atrophy.[ncbi.nlm.nih.gov] Peripheral neuropathy (PN) is a significant public health concern, resulting in abnormal gait biomechanics, diminished postural stability, and increased risk of falls.[ncbi.nlm.nih.gov] Motor nerve damage can lead to muscle weakness, difficulty walking or moving the arms, cramps and spasms.[foundationforpn.org]

  • Young Adult-Onset Distal Hereditary Motor Neuropathy

    GJC2 Leukodystrophy hypomyelinating type 3 AIMP1 Leukodystrophy hypomyelinating type 4 HSPD1 Leukodystrophy hypomyelinating type 5 FAM126A Leukodystrophy hypomyelinating[centogene.com] gait.[now.aapmr.org] Symptoms are very slowly progressive, with difficulty walking after age 40.[clinicalgate.com]

  • Arthritis

    Stowe and Lakshmi Raman, Perinatal chronic hypoxia induces cortical inflammation, hypomyelination, and peripheral myelin‐specific T cell autoreactivity, Journal of Leukocyte[doi.org] This case report describes the findings of a previously healthy pediatric patient with acute onset of knee swelling and abnormal gait.[ncbi.nlm.nih.gov] walking or bending the joint Some patients with osteoarthritis also develop a bone spur (a bony protrusion) at the affected joint.[foothealthfacts.org]

  • Charcot-Marie-Tooth Disease Type 2S

    […] axonal neuropathy (Gigaxonin) CMT 3 (PMP22, MPZ, PRX, ERG2) CMT 4 ( GDAP1 , MTM2, MTM13, SH3TC2, NDRG1, ERG2, PRX, HK1, FDG4, FIG4) CMTX 2 (Xp22.2) CMTX 4 (AIFM1) Congenital hypomyelination[neuromuscular.wustl.edu] They may include: Muscle weakness in the limbs (e.g. feet, ankles, legs and hands) Unusual gait Abnormal foot structure (e.g. high arches or flat feet) Numbness or loss of[news-medical.net] Many children who have CMT4 also have hammertoes (or other foot deformities), develop scoliosis or have difficulty walking.[gillettechildrens.org]

  • Hereditary Motor and Sensory Neuropathy

    A – D, MR images of the lumbosacral spine in a patient with the congenital hypomyelinating form of DSD (case 8).[ajnr.org] gait.[now.aapmr.org] Gait abnormalities and/or foot deformities were common reasons for referral. Scoliosis developed in all 10 and hand atrophies in 7 children.[ncbi.nlm.nih.gov]

  • Binswanger Disease

    […] months SE 376 Myelination at 2 years IR 378 186ab Congenital malformation Myelination in accordance with age 380 187a Microcephaly partial holoprosencephaly Myelination 383 Hypomyelination[books.google.de] The abnormality of gait that may occur in patients with subcortical arteriosclerotic encephalopathy is described in 12 patients in whom difficulty walking was the presenting[medigoo.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.ro]

  • 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] Furthermore, among the core symptoms of HSP are also included abnormal gait and difficulty in walking, decreased vibratory sense at the ankles, and paresthesia. [13] Initial[ipfs.io] Furthermore, among the core symptoms of HSP are also included abnormal gait and difficulty in walking, decreased vibratory sense at the ankles, and paresthesia. [10] Individuals[en.wikipedia.org]

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