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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.[ncbi.nlm.nih.gov] […] distinction of HCC from other forms of hypomyelinating leukoencephalopathies.[ncbi.nlm.nih.gov] Hypomyelination and congenital cataract is caused by a reduced ability to form myelin (hypomyelination).[ghr.nlm.nih.gov]

  • Déjerine-Sottas Disease

    , consistent with congenital hypomyelination neuropathy (CHN).[ncbi.nlm.nih.gov] 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[kidbones.net] They include Charcot-Marie-Tooth disease, Dejerine-Sottas disease, congenital hypomyelinating neuropathy and hereditary neuropathy with liability to pressure palsy.[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] […] 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] […] 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]

  • Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia

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

  • Autosomal Recessive Spastic Paraplegia Type 56

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

  • Infantile-Onset Ascending Hereditary Spastic Paralysis

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

  • 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] 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[invitae.com] Hypomyelination and congenital cataract: neuroimaging features of a novel inherited white matter disorder. AJNR.[nature.com]

  • Muscular Dystrophy-Dystroglycanopathy Type B6

    […] neuropathy (CHN), Neuropathy, congenital hypomyelinating, CMT4E, Hypomyelination, severe congenital, CHN, Charcot Marie Tooth disease type 4E, Autosomal recessive congenital[rarediseases.info.nih.gov] 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.[ncbi.nlm.nih.gov] Arranged in order of neuroanatomic localization, these include motor neuron diseases (eg, spinal muscular atrophy), neuropathies (eg, congenital hypomyelinating neuropathies[mhmedical.com]

  • 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[egl-eurofins.com]

  • X-Linked Spinocerebellar Ataxia Type 5

    Hypomyelination with congenital cataracts.[ajnr.org] VWM Progressive ataxia Spasticity Optic atrophy Seizures Autosomal recessive 3q27 Mutations affect eIF2B 4H syndrome Short stature Slowly progressive ataxia Hypogonadism Hypomyelination[emedicine.medscape.com] […] 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[blueprintgenetics.com]

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