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Autosomal Recessive Spastic Paraplegia Type 26

GALNT1


Presentation

  • HSP can be classified as pure or uncomplicated if no additional findings are present (2). Age of onset of HSP can range from early childhood to late adulthood.[dnatesting.uchicago.edu]
  • Entry status i Reviewed (UniProtKB/Swiss-Prot) Annotation program Chordata Protein Annotation Program Disclaimer Any medical or genetic information present in this entry is provided for research, educational and informational purposes only.[uniprot.org]
  • The age of onset and the presenting symptoms as well as the rate of progression varied in our family.[docplayer.net]
  • Muscle weakness when present is seen in iliopsoas, tibialis anterior and, to a lesser extent, the hamstrings.[jnnp.bmj.com]
  • Página 51 - Selective IgA deficiency: presentation of 30 cases and a review of the literature. ‎ Página 188 - Dudding, BA, Gorlin, RJ, and Langer, LO: The oto-palato-digital syndrome.[books.google.es]
Difficulty Walking
  • The disease becomes evident in childhood or adolescence with the development of hypotonia, difficulty walking, or intellectual disabilities.[ivami.com]
  • Spastic paraplegia type 15 usually becomes apparent in childhood or adolescence with the development of weak muscle tone (hypotonia), difficulty walking, or intellectual disability.[ghr.nlm.nih.gov]
  • The primary symptom of HSP is difficulty walking due to weakness and tightness (spasticity) in the legs. Both legs are affected, usually to a relatively similar degree. The term “paraplegia” means severe weakness in both legs including paralysis.[rarediseases.org]
  • walking Difficulty in walking 0002355 Distal amyotrophy Distal muscle wasting 0003693 Dysarthria Difficulty articulating speech 0001260 Dysmetria Lack of coordination of movement 0001310 Emotional lability Emotional instability 0000712 Frequent falls[rarediseases.info.nih.gov]
  • Most patients present with difficulty walking or gait disturbance, noticed either by themselves or a relative. In those with childhood onset, a delay in walking is not uncommon.[jnnp.bmj.com]
Incontinence
  • In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body.[malacards.org]
  • During follow-up, 94% developed sphincter problems, manifesting as urinary as well as fecal incontinence in 44%. Obesity was seen in 14 patients in total (78%), of whom 9 were non-ambulatory.[nature.com]
  • Additional features include hypermyelinated retinal fibers, urge incontinence, and erectile dysfunction. Cerebellar vermis atrophy and linear hypointensities in the pons are typical early findings [12, 13].[docplayer.net]
Urinary Incontinence
  • A comparably rapid progression with predominant learning difficulties at onset, followed by severe spastic paraplegia with distal amyotrophy, hallucinations in adolescence, aphasia, obesity, and fecal and urinary incontinence, was recently described in[nature.com]
Hyperreflexia
  • Affected individuals may have sensory neuropathy, motor neuropathy, hyperreflexia of the lower limbs, muscular atrophy or decreased bladder control. Rarely, the disease is associated with parkinsonism.[ivami.com]
  • […] spasticity is increased at the hamstrings, quadriceps and ankles  Weakness is most notable at the iliopsoas, tibialis anterior, hamstring muscles  difficulty in walking, decreased vibratory sense at the ankles, and paresthesia  In lower extremities hyperreflexia[slideshare.net]
  • People with this form of spastic paraplegia can have numbness, tingling, or pain in the arms and legs (sensory neuropathy); impairment of the nerves used for muscle movement (motor neuropathy); exaggerated reflexes (hyperreflexia) of the lower limbs;[ghr.nlm.nih.gov]
  • Hyperreflexia of the lower as well as the upper limbs was also observed. Brain MRI findings were similar to that of patient II3.[omicsonline.org]
  • 0003487 Cerebral cortical atrophy Decrease in size of the outer layer of the brain due to loss of brain cells 0002120 Gait disturbance Abnormal gait Abnormal walk Impaired gait [ more ] 0001288 Hyperintensity of cerebral white matter on MRI 0030890 Hyperreflexia[rarediseases.info.nih.gov]
Cerebellar Sign
  • Additional features include intellectual disability, peripheral neuropathy, dysarthria, cerebellar signs, extrapyramidal signs, and cortical atrophy. The disorder is slowly progressive.[malacards.org]
  • SPG15 is a complex form associated with additional neurological symptoms such as cognitive deterioration or mental retardation, axonal neuropathy, mild cerebellar signs, and, less frequently, a central hearing deficit, decreased visual acuity, or retinal[genecards.org]
  • Less commonly reported manifestations include skeletal abnormalities (i.e. pes cavus, scoliosis ), dyskinesia, dystonia , cataracts , cerebellar signs (i.e. saccadic dysfunction, nystagmus , dysmetria), bladder disturbances, and behavioral problems.[rarediseases.info.nih.gov]
  • Cerebellar signs were present in 4 patients (family I) and consisted of a dysarthric cerebellar speech, dysmetria, and abnormal rapid alternating movements in the upper extremities.[ajnr.org]
Spastic Gait
  • Background: Hereditary spastic paraplegias (HSP) are degenerative diseases of upper motor neurons characterized by a progressive spastic gait disorder which are phenotypically as well as genetically highly heterogeneous.[mdsabstracts.org]
  • Walking pattern described as “spastic gait” occurs in which the following elements are present, each to variable degree in different individuals: a) heel strike is shifted forward (landing on the mid-foot or even further forward on the balls of the feet[rarediseases.org]
  • gait Spastic walk 0002064 Spastic paraplegia 0001258 Toe walking Toe-walking 0040083 Showing of 37 Last updated: 12/1/2018 If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease.[rarediseases.info.nih.gov]
  • If symptoms begin during the teenage years or later, then spastic gait disturbance usually progresses over many years.[en.wikipedia.org]
  • Clinical progression and genetic analysis in hereditary spastic paraplegia with thin corpus collasum in spastic gait gene 11 (SPG11). Arch Neurol 2004 ; 61 : 117 –21 Ohnishi J, Tomoda Y, Yokoyama K.[ajnr.org]
Lower Extremity Spasticity
  • Genetic counseling Hereditary Spastic Paraplegia (HSP) is a group of clinically and genetically heterogeneous disorders characterized by lower extremity spasticity and weakness.[asperbio.com]
  • Clinical Features  Symptoms depend on the type of HSP inherited  Main feature progressive spasticity in the lower limbs, due to pyramidal tract dysfunction  In the lower extremities, spasticity is increased at the hamstrings, quadriceps and ankles[slideshare.net]
  • Clinically, patients present with slowly progressive distal limb weakness and lower extremity spasticity. Peripheral sensory neurons may be affected in the later stages of the disease.[reference.md]
  • All forms of HSP, complicated and uncomplicated, share the primary symptom of lower-extremity spastic weakness.[invitae.com]
Abnormal Gait
  • Showing of 37 30%-79% of people have these symptoms Babinski sign 0003487 Cerebral cortical atrophy Decrease in size of the outer layer of the brain due to loss of brain cells 0002120 Gait disturbance Abnormal gait Abnormal walk Impaired gait [ more ][rarediseases.info.nih.gov]
  • The symptoms of HSP can include the following: Abnormal gait Delayed walking Repeated tripping or falling Weakness of the leg muscles Rigidity and increased tone of the person's leg muscles People with uncomplicated HSP can also experience additional[disabled-world.com]
  • Furthermore, among the core symptoms of HSP are also included abnormal gait and difficulty in walking, decreased vibratory sense at the ankles, and paresthesia . [10] Individuals with HSP can experience extreme fatigue associated with central nervous[en.wikipedia.org]
  • At the extremes are asymptomatic patients with pyramidal signs in the lower limbs with a normal or only slightly abnormal gait and a few patients who are chairbound or bedridden. 71 94 There is marked variability in the age at onset of symptoms in chromosome[jnnp.bmj.com]

Treatment

  • It brings together nearly the entire spectrum of motor disorders and Neurology into one convenient resource to aid in a comprehensive evaluation, diagnosis, distinction, and treatment of various disorders.[books.google.com]
  • Ali Fatemi Oxford University Press, 2016/08/18 - 1488 ページ The second edition of Neurobiology of Disease includes nearly 200 articles surveying all major disorders of the nervous system in both adults and children, focusing on relevant diagnosis and treatments[books.google.com]
  • CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes.[diseaseinfosearch.org]
  • It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.[uniprot.org]
  • For people with HSP who experience bladder control issues, treatment with oxybutynin might help to relieve bladder spasticity.[disabled-world.com]

Prognosis

  • Determining the molecular basis of disease using genetic testing can be useful in predicting prognosis and disease course, and can aid in identification of at-risk family members.[dnatesting.uchicago.edu]
  • Abstract Although SPG11 is the most common complicated hereditary spastic paraplegia, our knowledge of the long-term prognosis and life expectancy is limited.[nature.com]
  • Prognosis: predicting symptoms and course of HSP As noted above, there is significant variation in HSP symptoms and their severity. This limits the certainty of making predictions.[rarediseases.org]
  • Prognosis [ edit ] Although HSP is a progressive condition, the prognosis for individuals with HSP varies greatly. It primarily affects the legs although there can be some upperbody involvement in some individuals.[en.wikipedia.org]
  • Disorders, the prognosis of which differs significantly from HSP, such as multiple sclerosis and familial motor neuron disease should also be excluded. The necessity for investigations will vary depending on the individual clinical picture.[jnnp.bmj.com]

Etiology

  • Accordingly, plasma oxysterols are biomarkers that should be included in the screening of any spastic paraplegia of unknown etiology.[oxfordmedicine.com]
  • Hereditary Spastic Paraplegia Etiology HSP is a highly genetically heterogeneous group of disorders (4). 70-80% of HSP is inherited in an autosomal dominant manner, and the majority of dominant HSP is classified as uncomplicated or pure HSP (2).[dnatesting.uchicago.edu]
  • Etiological heterogeneity in X-linked spastic paraplegia. Am J Hum Genet 1987 ; 41 : 933 –43 Goldblatt J, Ballo R, Sachs B, et al. X-linked spastic paraplegia: evidence for homogeneity with a variable phenotype.[ajnr.org]
  • Kubota A, Ishiura H, Mitsui J, Sakuishi K, Iwata A, Yamamoto T, Nishino I, Tsuji S, Shimizu J Internal medicine (Tokyo, Japan) 57(6) 877-882 2017年12月 [査読有り] Identification of candidate genes involved in the etiology of sporadic Tourette syndrome by exome[researchmap.jp]

Epidemiology

  • SHOWING 1-10 OF 459 REFERENCES The epidemiology of Leber hereditary optic neuropathy[semanticscholar.org]
  • […] intellectual disability - motor dysfunction - multiple joint contractures Total congenital cataract Synonym(s): - SCA26 Classification (Orphanet): - Rare genetic disease - Rare neurologic disease Classification (ICD10): - Diseases of the nervous system - Epidemiological[csbg.cnb.csic.es]
  • The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies. Neuroepidemiology. 2014; 42(3):174-83.[invitae.com]
  • Relevant External Links for ZFYVE26 Genetic Association Database (GAD) ZFYVE26 Human Genome Epidemiology (HuGE) Navigator ZFYVE26 Atlas of Genetics and Cytogenetics in Oncology and Haematology: ZFYVE26 No data available for Genatlas for ZFYVE26 Gene Identification[genecards.org]
Sex distribution
Age distribution

Pathophysiology

  • Pathophysiology [ edit ] The major feature of HSP is a length dependent axonal degeneration. [21] These include the crossed and uncrossed corticospinal tracts to the legs and fasciculus gracilis .[en.wikipedia.org]
  • Minotti, et al Sacs knockout mice present pathophysiological defects underlying autosomal recessive spastic ataxia of Charlevoix-Saguenay. Hum. Mol. Genet. 24: Girard, M., R. Lariviere, D. A. Parfitt, E. C. Deane, R. Gaudet, N.[docplayer.net]

Prevention

  • Treatment No specific treatment is known that would prevent, slow, or reverse HSP Available therapies mainly consist of symptomatic medical management and promoting physical and emotional well-being 26. Gen. Spas ticity Oral Agents Foc.[slideshare.net]
  • Even though physical therapy does not either prevent or reduce degenerative changes to the person's spinal cord, it is believed that receiving regular therapy can play an important part in assisting people with HSP to maintain and increase their muscle[disabled-world.com]
  • Treatment [ edit ] No specific treatment is known that would prevent, slow, or reverse HSP. Available therapies mainly consist of symptomatic medical management and promoting physical and emotional well-being.[en.wikipedia.org]

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