Symptoma

Autosomal Recessive Spastic Paraplegia Type 26

Autosomal Recessive Spastic Paraplegia 26

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]

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]

Patients with SPG3A were more likely to present at a younger age, with a mean age at symptom onset of 10.1 (SE 4.4) years ( p 0.022) ( figure 3 ). [ng.neurology.org]

  • Difficulty Walking

    The disease becomes evident in childhood or adolescence with the development of hypotonia, difficulty walking, or intellectual disabilities. [ivami.com]

    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]

    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]

    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]

  • Lymphedema

    […] sensory neuropathy with spastic paraplegia CYP2U1 SPG56 CYP7B1 SPG5 DDHD1 SPG28 DDHD2 SPG54 ENTPD1 * SPG64 ERLIN1 * SPG62 ERLIN2 SPG18 EXOSC3 * pontocerebellar hypoplasia, type 1B FA2H SPG35 GBA2 SPG46 GJC2 SPG44 hypomyelinating leukodystrophy; hereditary lymphedema [invitae.com]

    MT-TF, MT-ND5, MT-TK, MITO Melnick-Needles-Syndrom FLNA, Merosin-deficient CMD LAMA2 Metachromatische Leukodystrophie ARSA Metaphyseal chondrodysplasia, Schmid type COL10A1 Microcephaly ASPM, SLC25A19, CEP152 MIDAS-Syndrom HCCS, HCCS Milroy Disease/Lymphedema-Dystichiasis [meduniwien.ac.at]

  • Pneumonia

    […] proteobacteria (Neisseria meningitidis) bread mold (Neurospora crassa) Chromalveolata (Phytophthora infestans) common water flea (Daphnia pulex) corn (Zea mays) E. coli (Escherichia coli) filamentous fungi (Aspergillus nidulans) Firmicute bacteria (Streptococcus pneumoniae [genecards.org]

    He died 25 years later of pneumonia. Patient II:4 experienced lower limb weakness and balance problems since age 6. He was later diagnosed with spinocerebellar ataxia and polyneuropathy. [docplayer.net]

  • Heart Failure

    Hershberger RE, Lindenfeld J, Mestroni L, et al; Heart Failure Society of America. Genetic evaluation of cardiomyopathy -- a Heart Failure Society of America practice guideline. J Card Fail. 2009;15(2):83-97. [aetna.com]

  • Arthritis

    Hereditary Hemochromatosis Hemochromatosis, a condition involving excess accumulation of iron, can lead to iron overload, which in turn can result in complications such as cirrhosis, diabetes, cardiomyopathy, and arthritis (Burke 1992; Hanson et al, 2001 [aetna.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]

    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]

    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]

  • 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]

    Diagnosis of SPG is established by the following clinical features 1, 2 : Typical clinical symptoms of spastic gait impairment and neurologic findings of spastic weakness, hyperreflexia, typically associated with bilateral extensor plantar responses A [centogene.com]

    If symptoms begin during the teenage years or later, then spastic gait disturbance usually progresses over many years. [en.wikipedia.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]

    The following individuals are candidates for spastic paraplegia-related gene testing: Individuals with a family history of hereditary spastic paraplegia and presentation of lower extremity spasticity and weakness and other common symptoms Individuals [centogene.com]

  • Babinski Sign

    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]

    Achilles and brachioradialis reflexes were absent, but Babinski sign was present. Distal muscles in the lower limbs were atrophic, and gait was spastic ataxic. [docplayer.net]

    Examination at the age of 22 years after a traffic accident revealed failure of abduction of the left eye, hyperreflexia in all four extremities and Babinski sign. [journals.plos.org]

    Detailed neurological examination showed predominantly bilateral proximal pronounced paresis (3/4) of the lower limbs with hyperreflexia and positive bilateral Babinski sign. He also complains about urinary urgency. [omicsonline.org]

  • Dysmetria

    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]

    A trace of terminal dysmetria may also be found in the upper limbs, but more florid cerebellar signs are not seen. [jnnp.bmj.com]

    Moderate truncal ataxia was present with bilateral dysmetria and dysdiadochokinesia. It was not possible to assess cerebellar function in the legs due to weakness. [journals.plos.org]

Our findings confirm that this is indeed not an uncommon presentation of this disorder and we suggest that SPG7 gene analysis should be included in the diagnostic workup of autosomal recessive PEO, especially if spasticity is present. [journals.plos.org]

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]

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]

For people with HSP who experience bladder control issues, treatment with oxybutynin might help to relieve bladder spasticity. [disabled-world.com]

You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]

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]

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]

Candidates for diagnostic testing include infants, children, and adults with generalized hypotonia and proximal muscle weakness of unknown etiology. [aetna.com]

MtDNA defects of either primary or secondary etiology are known to segregate predominantly in clinically affected tissues. [journals.plos.org]

Consequently, they are often approached together in epidemiological studies. [karger.com]

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]

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]

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]

Clinical manifestations, pathophysiology, and diagnosis of atrioventricular (AV) canal defects. UpToDate [online serial]. Waltham, MA: UpToDate; reviewed December 2013. Altman CA. [aetna.com]

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]

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]

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]

While pharmacotherapies have made some impact on the prevention of SCD, the introduction of implantable cardioverter-defibrillator (ICD) therapy has been the single major advance in the prevention of SCD in the young. [aetna.com]

Advances in genetic research in the last decades have improved their diagnosis and brought new possibilities for prevention and future treatments. Still, there is great uncertainty regarding their global epidemiology. [karger.com]