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349 Possible Causes for Hypomyelination, Muscle Twitch

  • Peripheral Neuropathy

    Magnetic resonance imaging showed cortical disturbances in addition to profound hypomyelination and cerebellar atrophy.[ncbi.nlm.nih.gov] On clinical examination, muscle twitches of fingers of both hands, as well as the abductor halluces and the dorsal interossei muscles of the right foot were observed.[ncbi.nlm.nih.gov] […] asymmetric demyelinating-type peripheral neuropathy, and sural nerve biopsy documented reduced myelinated nerve fiber density with uniformly thin myelin sheaths, suggesting hypomyelination[ncbi.nlm.nih.gov]

  • Unverricht-Lundborg Syndrome

    GJC2 Leukodystrophy hypomyelinating type 3 AIMP1 Leukodystrophy hypomyelinating type 4 HSPD1 Leukodystrophy hypomyelinating type 5 FAM126A Leukodystrophy hypomyelinating[centogene.com] twitches, which often were painful, caused anxiety, and reminded Lundborg of clonic, tonic-clonic, or tetanic seizures ( Puschmann 2009 ).[medlink.com] Purohit MD MPH Unverricht-Lundborg Disease is an inherited form of progressive myoclonus epilepsy that is characterized by episodes of involuntary muscle jerking or twitching[dovemed.com]

  • Spastic Paraparesis-Deafness Syndrome

    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] Apraxia (Medical Encyclopedia) Hand or foot spasms (Medical Encyclopedia) Muscle atrophy (Medical Encyclopedia) Muscle function loss (Medical Encyclopedia) Muscle twitching[icdlist.com] […] leukodystrophy; hereditary lymphedema HEXA Hexosaminidase A deficiency HSPD1 SPG13 MitCHAP-60 disease (hypomyelinating leukodystrophy) IBA57 * SPG74 KDM5C MRXSCJ X-linked[invitae.com]

  • Epilepsy

    […] in ACTL6B, coding for a subunit of the neuron-specific chromatin remodeling complex nBAF, cause early onset severe developmental and epileptic encephalopathy with brain hypomyelination[doi.org] These seizures produce muscle twitches, convulsions and loss of consciousness. People with this type of epilepsy do not remember having a seizure.[faculty.washington.edu] Gruss and Rafal Ploski, Developmental epileptic encephalopathy with hypomyelination and brain atrophy associated with PTPN23 variants affecting the assembly of UsnRNPs, European[doi.org]

  • Juvenile Myoclonic Epilepsy

    Gruss and Rafal Ploski, Developmental epileptic encephalopathy with hypomyelination and brain atrophy associated with PTPN23 variants affecting the assembly of UsnRNPs, European[doi.org] Myoclonic seizures and muscle twitching or uncontrolled jerking are the most common type of seizures in the people suffering with JME.[eurekaselect.com] twitches or jerks in the upper arms, shoulders, or neck movements on both sides of the body at the same time child usually is awake and can think clearly during and right[m.kidshealth.org]

  • Paraplegia

    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] , but also to cause muscle hypertrophy and muscle fibre shift from fast twitch type 2X to 2A. 3 In addition to these effects, oxidative enzyme activity has also been shown[bjsm.bmj.com] […] leukodystrophy; hereditary lymphedema HEXA Hexosaminidase A deficiency HSPD1 SPG13 MitCHAP-60 disease (hypomyelinating leukodystrophy) IBA57 * SPG74 KDM5C MRXSCJ X-linked[invitae.com]

  • Upper Motor Neuron Disease

    […] paralysis. [68] Spinal muscular atrophy The differential diagnosis of SMA includes congenital muscular dystrophy, congenital myopathy, congenital neuropathy (eg, congenital hypomyelination[emedicine.medscape.com] Lower motor neuron disease causes weakness, loss of muscle ("atrophy") and muscle twitching ("fasciculations").[neurology.emory.edu] […] wasting and weakness, absent reflexes, loss of weight and muscle twitching.[mndnsw.asn.au]

  • Myoclonic Jerking

    FOLR1 Cerebral folate deficiency FOXRED1 Leigh syndrome, Mitochondrial complex I deficiency GALC Krabbe disease GFAP Alexander disease GJC2 Leukodystrophy, hypomyelinating[genda.com.ar] Myoclonus (Muscle Twitch) Menu What is myoclonus? Myoclonus is a symptom of a disease in which a muscle or group of muscles suddenly starts twitching or jerking.[my.clevelandclinic.org] The basics of myoclonus dictate that it is simply a muscle twitch followed by relaxation.[integrativehealthcare.org]

  • Motor Neuron Disease

    […] paralysis. [68] Spinal muscular atrophy The differential diagnosis of SMA includes congenital muscular dystrophy, congenital myopathy, congenital neuropathy (eg, congenital hypomyelination[emedicine.medscape.com] A 69-year-old man with long-standing depression and failing memory presented with muscle twitches of 8 months' duration.[ncbi.nlm.nih.gov] […] wasting and weakness, absent reflexes, loss of weight and muscle twitching.[mndnsw.asn.au]

  • Multiple Sclerosis

    Defective oligodendrocyte development and severe hypomyelination in PDGF-A knockout mice. Development. 1999; 126 :457–67. [ PubMed ] [ Google Scholar ] 28.[ncbi.nlm.nih.gov] […] like difficulty walking or problems with coordination twitching, tingling, numbness and pain in certain areas of the body sexual problems in men and women...[medicinenet.com] […] of the facial muscles): May also be a presenting symptom Eye symptoms: Including diplopia on lateral gaze (33% of patients) Heat intolerance Constitutional symptoms: Especially[emedicine.com]

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