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]

A 19-year-old young man, born out of a nonconsanguineous marriage, presented with a history of progressive difficulty in walking for the past 3 years. [neurologyindia.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]

  Balance difficulty, often worse when walking in the dark or on uneven surfaces is not uncommon in individuals with HSP. Tightness in the legs and leg muscle spasm (often at night) are not uncommon. [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]

• Anemia

  Disease Type of connection Blackfan-Diamond anemia Familial pancreatic carcinoma Precursor B-cell acute lymphoblastic leukemia Precursor T-cell acute lymphoblastic leukemia Adrenocortical carcinoma B-cell chronic lymphocytic leukemia Essential thrombocythemia [csbg.cnb.csic.es]

  Myopathy, Autosomal Dominant Centronuclear Myopathy AR 100 20 of 20 C12ORF65 Combined Oxidative Phosphorylation Deficiency, Autosomal Recessive Spastic Paraplegia AR na na CACNA1E Epileptic Encephalopathy AD 99.94 25 of 25 CASK Nonspherocytic Hemolytic Anemia [igenomix.es]

  […] below) Factor XIII deficiency, congenital (F13 (Factor XIII beta globulin)) Familial adenomatous polyposis coli (APC) (see below) Familial dysautonomia (IKBKAP) Familial hypocalciuric hypercalcemia (see below) Familial Mediterranean fever (MEFV) Fanconi anemia [aetna.com]

• Collapse

  […] telangiectasia MND UMN only: PLS · PP · HSP LMN only: Distal hereditary motor neuropathies · Spinal muscular atrophies ( SMA, SMAX1, SMAX2, DSMA1, SMA-PCH, SMA-LED ) · PMA · PBP ( Fazio-Londe, Infantile progressive bulbar palsy ) both: ALS {| class="navbox collapsible [psychology.wikia.com]

• Addictive Behavior

  Any variations within this pathway, whether genetic or environmental (epigenetic), may result in addictive behaviors or reward deficiency syndrome (RDS), which was coined to define addictive behaviors and their genetic components. [aetna.com]

• Spastic Paraplegia

  MalaCards based summary : Spastic Paraplegia 26, Autosomal Recessive, also known as spg26, is related to hereditary spastic paraplegia and spastic paraplegia 26, and has symptoms including ataxia An important gene associated with Spastic Paraplegia 26 [malacards.org]

  Spastic paraplegia 12, autosomal dominant 0 *Spastic Paraplegia, Hereditary. Spastic paraplegia 11, autosomal recessive 0 *Spastic Paraplegia, Hereditary. Spastic paraplegia 10, autosomal dominant 0 *Spastic Paraplegia, Hereditary. [reference.md]

  Company Science NGS Panel – Genetic Testing for Spastic Paraplegia Hereditary Spastic Paraplegia (HSP), Spastic paraplegia, SPG, Familial Spastic Paraplegia, Hereditary Spastic Paraparesis, Strumpell-Lorrain Syndrome Hereditary Spastic Paraplegia (HSP [centogene.com]

  Spastic paraplegia type 15 is part of a group of genetic disorders known as hereditary spastic paraplegias. [ghr.nlm.nih.gov]

  paraplegia 42 (autosomal dominant) SLC33A1 AT-1 603690 95 spastic paraplegia 20 (Troyer syndrome) spartin spastic paraplegia 20, spartin (troyer syndrome) spg20 gene SPG20 KIAA0610 SPARTIN TAHCCP1 607111 18514 spastin chromosome 1 open reading frame [ukgtn.nhs.uk]

• Dysarthria

  Additional features include intellectual disability, peripheral neuropathy, dysarthria, cerebellar signs, extrapyramidal signs, and cortical atrophy. The disorder is slowly progressive. [malacards.org]

  Fitzsimmons- Guilbert syndrome 0 *Dysarthria *Spastic Paraplegia, Hereditary *Brachydactyly. [reference.md]

  […] complex type of hereditary spastic paraplegia characterized by the onset in childhood/adolescence (ages 2-19) of progressive spastic paraplegia associated mainly with mild to moderate cognitive impairment and developmental delay, cerebellar ataxia, dysarthria [rarediseases.info.nih.gov]

  66 dysarthria and mild facial immobility, 40 cardiac disease, 32 epilepsy, 39 and in the Mast syndrome which consists of spastic paraplegia with dementia, dysarthria, and athetosis. 62 Dementia has also been reported in both autosomal dominant and recessive [jnnp.bmj.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]

  Hereditary spastic paraplegia ( HSP ) is a group of inherited diseases whose main feature is a progressive gait disorder. [en.wikipedia.org]

• Tremor

  Resting tremor, bradykinesia or slowed movement, and akinesia, an inability to initiate movement, are the key movement phenotypes. [hstalks.com]

  Rarely, spastic paraplegia type 15 is associated with a group of movement abnormalities called parkinsonism, which includes tremors, rigidity, and unusually slow movement (bradykinesia). [ghr.nlm.nih.gov]

  ( Essential tremor, Intention tremor ) · Restless legs · Stiff person Dementia Tauopathy : Alzheimer's ( Early-onset ) Primary progressive aphasia · Frontotemporal dementia / Frontotemporal lobar degeneration ( Pick's, Dementia with Lewy bodies ) Multi-infarct [psychology.wikia.com]

  Study of a family with progressive ataxia, tremor and severe distal amyotrophy. Can J Neurol Sci. 1980 ; 7 : 345 – 9. 21. Duquette, A, Roddier, K, McNabb-Baltar, J, Gosselin, I, St-Denis, A, Dicaire, MJ, et al. [cambridge.org]

  The first examination at age 30 found mild dysarthria, mild horizontal nystagmus, and slight intention tremor in the limbs. Achilles and brachioradialis reflexes were absent, but Babinski sign was present. [docplayer.net]

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]

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 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]

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]

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]

Arthrogryposis (multiple congenital contractures): Diagnostic approach to etiology, classification, genetics, and general principles. European Journal of Medical Genetics, 57(8), 464-472. doi:10.1016/j.ejmg.2014.03.008 Request Information [igenomix.es]

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]

The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies. Neuroepidemiology. 2014; 42(3):174-83. [invitae.com]

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]

The majority of individuals with HSP have a normal life expectancy. [2] Treatment Edit No specific treatment is know that would prevent, slow, or reverse HSP. [psychology.wikia.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]

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]