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2,051 Possible Causes for Muscle Spasticity, Mutation in the VPS53 Gene, Progressive Spastic Quadriplegia

  • Hyperargininemia

    Clinical manifestations include developmental delay, seizures, mental retardation, hypotonia, ataxia and progressive spastic quadriplegia.[uniprot.org] It most often appears as stiffness, especially in the legs, caused by abnormal tensing of the muscles ( spasticity ).[wikidoc.org] Main features include failure to thrive, signs of hyperammonemia (anorexia, irritability, tachypnea, lethargy, vomiting), and additional neurologic signs (progressive spastic[accessanesthesiology.mhmedical.com]

    Missing: Mutation in the VPS53 Gene
  • Spastic Paraplegia

    A 29-year-old man developed progressive spastic quadriplegia from early childhood with dysarthria, ataxia, dysphagia, and intellectual delay, but he displayed no nystagmus[ncbi.nlm.nih.gov] It is accompanied by irritability and spastic contractions of the leg muscles. spastic paraplegia Paralysis of both lower limbs with muscle spasm.[medical-dictionary.thefreedictionary.com] Their primary symptoms are progressive spasticity and weakness of the leg and hip muscles.[sp-foundation.org]

    Missing: Mutation in the VPS53 Gene
  • X-Linked Spastic Paraplegia Type 2

    A 29-year-old man developed progressive spastic quadriplegia from early childhood with dysarthria, ataxia, dysphagia, and intellectual delay, but he displayed no nystagmus[ncbi.nlm.nih.gov] In addition to muscle contracture, spasticity may contribute to this deformity when spastic muscles are no longer able to relax fully.[medicaljournals.se] Their primary symptoms are progressive spasticity and weakness of the leg and hip muscles.[sp-foundationorg.presencehost.net]

    Missing: Mutation in the VPS53 Gene
  • Fucosidosis

    Clinical features consist of variable mental retardation (all patients), progressive spastic quadriplegia (6/10 cases), coarse facies (9/10 cases), growth retardation (7/9[ncbi.nlm.nih.gov] The infantile form (type I) features psychomotor deterioration, MUSCLE SPASTICITY, coarse facial features, growth retardation, skeletal abnormalities, visceromegaly, SEIZURES[connects.catalyst.harvard.edu] As the disease progresses, more serious and ever worsening symptoms develop, including seizures, spastic quadriplegia, progressive mental retardation and chronic lung infections[disability-benefits-help.org]

    Missing: Mutation in the VPS53 Gene
  • Cerebral Palsy

    In this case report we present a young adult male with non-ambulatory, spastic quadriplegia CP whom began a seated speed, resistance, and power training exercise program at[ncbi.nlm.nih.gov] RESULTS: Significant changes were observed in the children's gross motor function and muscle spasticity, as evidenced by the GMFM-88 total score, scores for each of its domains[ncbi.nlm.nih.gov] Spastic cerebral palsy This is by far the most common type of cerebral palsy accounting for around 70% of cases. It presents with stiff or spastic muscles.[symptoma.com]

    Missing: Mutation in the VPS53 Gene
  • Hereditary Spastic Paraplegia

    Autosomal dominant hereditary spastic paraplegia: A degenerative disorder of nerves with progressive spasticity of the legs. Abbreviated as AD-HSP.[medicinenet.com] Firstly, chronic spasticity might be a risk factor for histopathological muscle alterations.[ncbi.nlm.nih.gov] Their primary symptoms are progressive spasticity and weakness of the leg and hip muscles.[sp-foundationorg.presencehost.net]

    Missing: Mutation in the VPS53 Gene
  • Pelizaeus-Merzbacher Disease

    It is characterized by progressive psychomotor delay, nystagmus, spastic quadriplegia, and cerebellar ataxia.[ncbi.nlm.nih.gov] PMD is an extremely rare mother-to-son genetic condition characterized by nystagmus (involuntary rolling of the eyes) and hypotonia (low muscle tone) and eventually spasticity[globalgenes.org] […] contractures Spasticity Mental deterioration Convulsions Skeletal deformation 4 Causes Mutations in the PLP1 gene cause Pelizaeus- Merzbacher disease.[slideplayer.com]

    Missing: Mutation in the VPS53 Gene
  • Quadriplegia

    In both, neurologic problems started soon after birth and progressed rapidly to profound mental retardation, microcephaly, blindness, and spastic quadriparesis [7].[wikigenes.org] We evaluated the adverse events, walking time and distance, and the difference in muscle spasticity before and after HAL-training using a modified Ashworth scale (mAs).[ncbi.nlm.nih.gov] […] injected into the spine to reduce muscle spasticity.[oaklandortho.com]

    Missing: Mutation in the VPS53 Gene
  • Pontocerebellar Hypoplasia Type 2E

    80% and 100% cases Progressive spastic quadriplegia Very Common - Between 80% and 100% cases Opisthotonus Very Common - Between 80% and 100% cases Progressive microcephaly[mendelian.co] The disease, which the researchers have called PCCA2 (Progressive Cerebello-Cerebral Atrophy Type 2), is caused by two mutations in the VPS53 gene.[sciencedaily.com] In the case of PCCA, the families that have it may have one of two mutations in one gene called SepSecS, or one mutation in an unrelated gene, called VPS53.[popsci.com]

    Missing: Muscle Spasticity
  • Spastic Quadriplegic Cerebral Palsy Type 2

    Autosomal dominant hereditary spastic paraplegia: A degenerative disorder of nerves with progressive spasticity of the legs. Abbreviated as AD-HSP.[medicinenet.com] It is accompanied by irritability and spastic contractions of the leg muscles. spastic paraplegia Paralysis of both lower limbs with muscle spasm.[medical-dictionary.thefreedictionary.com] Contracture is muscle tissue shortening due to severe muscle tightening (spasticity).[mayoclinic.org]

    Missing: Mutation in the VPS53 Gene