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61 Possible Causes for Delayed Acquisition of Motor Skills, Hypomyelination

  • Hypomyelinating Leukodystrophy Type 5

    […] and hypomyelination of the central and peripheral nervous system.[] […] distinction of HCC from other forms of hypomyelinating leukoencephalopathies.[] Hypomyelination and congenital cataract is caused by a reduced ability to form myelin (hypomyelination).[]

  • Déjerine-Sottas Disease

    , consistent with congenital hypomyelination neuropathy (CHN).[] acquisition of motor skills Mild loss of hearing Limitation in eye movements Reduced muscle tone This condition can be diagnosed from the symptoms as well as your child’s[] They include Charcot-Marie-Tooth disease, Dejerine-Sottas disease, congenital hypomyelinating neuropathy and hereditary neuropathy with liability to pressure palsy.[]

  • 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[] […] 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[] […] 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[]

  • Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia

    Hypomyelination with congenital cataracts.[] […] der Knaap Syndrome (Vacuolating Leukodystrophy with Subcortical Cysts or MLC) Vanishing White Matter Disease (VWM) or Childhood ataxia with diffuse central nervous system hypomyelination[] Leukodystrophy hypomyelinating Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation Leukoencephalopathy with dystonia and motor neuropathy[]

  • Autosomal Recessive Spastic Paraplegia Type 56

    Acetazolamide & Phenytoin Cognition: Impaired Laboratory EEG: Generalized slowing CSF Glucose & Lactate: Low Hypomyelinating Leukodystrophy 6 (HLD6; HABC) Sporadic, ?[] A severe a utosomal recessive hypomyelinating leukodystrophy.[] […] spastic paraplegia 17; Neuropathy, distal hereditary motor, type V; Encephalopathy, progressive, with or without lipodystrophy AD, AR 16 HSPD1 118190 spastic paraplegia 13; hypomyelinating[]

  • Infantile-Onset Ascending Hereditary Spastic Paralysis

    […] leukodystrophy with or without oligondontia and/or hypogonadism Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome Hypomyelination with atrophy of[] […] spastic paraplegia 17; Neuropathy, distal hereditary motor, type V; Encephalopathy, progressive, with or without lipodystrophy AD, AR 16 HSPD1 118190 spastic paraplegia 13; hypomyelinating[] Cho is a marker of membrane synthesis and degradation and is a marker of myelin turnover; reduced concentration is seen in hypomyelination and dysmyelination.[]

  • 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[] CYP2U1 SPG56 CYP7B1 SPG5 DDHD1 SPG28 DDHD2 SPG54 ENTPD1 * SPG64 ERLIN1 * SPG62 ERLIN2 SPG18 EXOSC3 * pontocerebellar hypoplasia, type 1B FA2H SPG35 GBA2 SPG46 GJC2 SPG44 hypomyelinating[] Hypomyelination and congenital cataract: neuroimaging features of a novel inherited white matter disorder. AJNR.[]

  • Muscular Dystrophy-Dystroglycanopathy Type B6

    […] neuropathy (CHN), Neuropathy, congenital hypomyelinating, CMT4E, Hypomyelination, severe congenital, CHN, Charcot Marie Tooth disease type 4E, Autosomal recessive congenital[] Since delay of motor skill acquisition may be a presenting symptom of CMD, onset of manifestations before age two years may be a reasonable diagnostic criterion.[] Arranged in order of neuroanatomic localization, these include motor neuron diseases (eg, spinal muscular atrophy), neuropathies (eg, congenital hypomyelinating neuropathies[]

  • Congenital Muscular Dystrophy Type 1A

    By six months of age all affected individuals show characteristic white matter changes on MRI, including hypomyelination and hypodensity of white matter; these changes are[]

  • X-Linked Spinocerebellar Ataxia Type 5

    Hypomyelination with congenital cataracts.[] VWM Progressive ataxia Spasticity Optic atrophy Seizures Autosomal recessive 3q27 Mutations affect eIF2B 4H syndrome Short stature Slowly progressive ataxia Hypogonadism Hypomyelination[] […] deficiency, nuclear type 2 AR 13 10 TTC8 Bardet-Biedl syndrome, Retinitis pigmentosa AR 5 16 TTPA Ataxia with isolated vitamin E deficiency AR 29 30 TUBB4A * Leukodystrophy, hypomyelinating[]

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