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499 Possible Causes for Mutation in the VPS53 Gene, Progressive Spastic Quadriplegia, Spasticity of Lower and Upper Limbs

  • 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: Spasticity of Lower and Upper Limbs
  • Hyperargininemia

    Clinical manifestations include developmental delay, seizures, mental retardation, hypotonia, ataxia and progressive spastic quadriplegia.[uniprot.org] The major symptoms of AD are all progressive and include psychomotor retardation, spastic tetraplegia where the lower limbs are more affected than the upper, hyperactivity[themedicalbiochemistrypage.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
  • Juvenile Primary Lateral Sclerosis

    […] disorders including pseudobulbar palsy and spastic quadriplegia.[orpha.net] […] and sustained clonus of the lower limbs within the first two years of life Progressive weakness and spasticity of the upper limbs by age seven to eight years Wheelchair dependence[cmm.ucsd.edu] Examination revealed upper motor neuron findings of pseudobulbar palsy and spastic quadriplegia, without dementia, cerebellar, extrapyramidal or sensory signs.[thieme-connect.com]

    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] The complex types involve the lower limbs and can affect the upper limbs to a lesser degree.[icdlist.com] limbs Spastic contractions of lower limbs Mild dementia Dystonia: abnormal muscle tone, with sustained muscle contractions, can typically contort the limbs in an abnormal[ulf.org]

    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] The complex types involve the lower limbs and can affect the upper limbs to a lesser degree.[malacards.org] Autosomal dominant hereditary spastic paraplegia: A degenerative disorder of nerves with progressive spasticity of the legs. Abbreviated as AD-HSP.[medicinenet.com]

    Missing: Mutation in the VPS53 Gene
  • Primary Lateral Sclerosis

    This 69-year-old woman developed spastic quadriplegia and dementia over 12 years. Left leg weakness progressed over 7 years to paraplegia, then quadriplegia by age 68.[ncbi.nlm.nih.gov] Primary lateral sclerosis (PLS) is a neurodegenerative disease with progressive corticospinal involvement and characterized by lower limbs spasticity followed by upper limbs[ncbi.nlm.nih.gov] It is characterized by progressive spasticity (involuntary muscle tension and spasms) and it affects the lower limbs, trunk, upper limbs, and bulbar muscles, usually in that[infoneuro.mcgill.ca]

    Missing: Mutation in the VPS53 Gene
  • Proud Syndrome

    Abby is one of 14 finalists chosen from 4,500 entries to be a face of the range A mum has described her excitement and pride after her daughter was unveiled as the new face of a popular yogurt. Ann Dillon is the proud mum of 19-month-old Abby, who has Down Syndrome and has just been revealed as one of the[…][independent.ie]

    Missing: Mutation in the VPS53 Gene Spasticity of Lower and Upper Limbs
  • 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] The complex types involve the lower limbs and can affect the upper limbs to a lesser degree.[icdlist.com] Hereditary Spastic Paraplegia (HSP) Hereditary spastic paraplegia is a rare type of paraplegia that is hereditary in nature and that can progress from a stiffness felt in[motionspecialties.com]

    Missing: Mutation in the VPS53 Gene
  • Radiculomyelopathy

    In 18 cases, after a variable interval, the upper limbs became involved, producing a spastic quadriplegia… The pattern resembled in many ways that of spondylitic myelopathy[fluoridealert.org] REMEMBER: antigravity muscles - stronger and more spastic - upper limb flexors (biceps), lower limb extensors (quads) The physician evaluates muscle stretch reflexes by tapping[neuroanatomy.wisc.edu] Myelopathic features are characterized by a more abrupt onset and include spastic paraplegia or quadriplegia, hyperreflexia, Babinski reflex, clonus, or a variety of sensory[fluoridealert.org]

    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] Hereditary spastic paraplegias (HSPs) constitute movement disorders with extreme lower limb spasticity caused by axonopathies of the upper motor neurons.[ncbi.nlm.nih.gov] We identified a large consanguineous family of Indian descent with four affected members with childhood onset HSP (SPG54), presenting with upper and lower limb spasticity,[ncbi.nlm.nih.gov]

    Missing: Mutation in the VPS53 Gene