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1,190 Possible Causes for Mutation in the VPS53 Gene, Progressive Spastic Quadriplegia, Spastic Gait

  • 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] , aphasia, shuffling gait, and adducted thumbs (MASA) syndrome, Spastic MARS2 Combined oxidative phosphorylation deficiency NIPA1 Spastic paraplegia PLP1 Pelizaeus-Merzbacher[genda.com.ar] 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]

  • 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] There are a number of references which give descriptions of a spastic gait - here's part of one I like: When a person has a spastic gait, his legs are typically weak and abnormally[hspjourney.blogspot.com] The disease spectrum for Pelizaeus-Merzbacher disease and spastic paraplegia type 2 is extraordinarily broad, ranging from a spastic gait in the pure form of spastic paraplegia[ncbi.nlm.nih.gov]

    Missing: Mutation in the VPS53 Gene
  • Juvenile Primary Lateral Sclerosis

    […] disorders including pseudobulbar palsy and spastic quadriplegia.[orpha.net] gait Spastic walk 0002064 Spastic tetraparesis 0001285 30%-79% of people have these symptoms Dysphagia Poor swallowing Swallowing difficulties Swallowing difficulty Last[rarediseases.info.nih.gov] 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
  • 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] […] by an onset in childhood or adulthood of progressive spastic paraplegia (with spastic gait, spasticity, lower limb weakness, pes cavus and urinary urgency) associated with[orpha.net] Initial symptoms that make be experienced are mild difficulties in walking style (causing what is called a spastic gait) and mild leg stiffness.[mda.org.nz]

    Missing: Mutation in the VPS53 Gene
  • Autosomal Dominant Spastic Paraplegia Type 6

    Autosomal dominant hereditary spastic paraplegia: A degenerative disorder of nerves with progressive spasticity of the legs. Abbreviated as AD-HSP.[medicinenet.com] 0002061 Progressive Worsens with time 0003676 Seizures Seizure 0001250 Spastic gait Spastic walk 0002064 Urinary bladder sphincter dysfunction 0002839 Urinary urgency Overactive[rarediseases.info.nih.gov] Spasticity is a state of increased muscle tone. Paraplegia refers to the legs (quadriplegia refers to both the arms and legs).[medicinenet.com]

    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] BACKGROUND: Previous researchers reported that popliteal angle did not correlate well with knee angle during gait in individuals with spastic cerebral palsy (CP).[ncbi.nlm.nih.gov] Abstract To compare medial gastrocnemius muscle-tendon structure, gait propulsive forces, and ankle joint gait kinetics between typically developing children and those with[ncbi.nlm.nih.gov]

    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] For many subjects with an ATL1 mutation, spastic gait begins in early childhood and does not significantly worsen, even over many years; such cases resemble spastic diplegic[ncbi.nlm.nih.gov] Characteristic clinical features comprise progressive spastic gait, cognitive impairment, and ataxia.[ncbi.nlm.nih.gov]

    Missing: Mutation in the VPS53 Gene
  • Autosomal Dominant Spastic Paraplegia Type 13

    Autosomal dominant hereditary spastic paraplegia: A degenerative disorder of nerves with progressive spasticity of the legs. Abbreviated as AD-HSP.[medicinenet.com] […] ankle clonus spastic gait lower limb hyperreflexia extensor plantar responses more Neurologic Peripheral Nervous System: decreased vibration sense in the lower limbs Genitourinary[malacards.org] SPG4 is characterized by insidiously progressive bilateral lower-limb gait spasticity.[centogene.com]

    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] The disease spectrum for Pelizaeus-Merzbacher disease and spastic paraplegia type 2 is extraordinarily broad, ranging from a spastic gait in the pure form of spastic paraplegia[ncbi.nlm.nih.gov] […] paraplegia 2 (SPG2; see this term), a disorder primarily characterized by spastic gait in its pure form.[orpha.net]

    Missing: Mutation in the VPS53 Gene
  • Hyperargininemia

    Clinical manifestations include developmental delay, seizures, mental retardation, hypotonia, ataxia and progressive spastic quadriplegia.[uniprot.org] Laboratory findings, gait abnormalities, spastic paraparesis, and electroencephalographic and neurophysiological abnormalities remained quite stable over the follow-up.[ncbi.nlm.nih.gov] 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