HSP is classified according to the clinical phenotype as either pure or complex, the latter presenting with neurological and systemic impairments in addition to spastic paraparesis. [journals.lww.com]

RESULTS Six patients from two families presented with a slowly progressive, autosomal recessive, spastic tetraplegia. [jnnp.bmj.com]

The age of onset and the presenting symptoms as well as the rate of progression varied in our family. [docplayer.net]

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]

Therefore, we present non-adjusted prevalence rates in order to increase comparability between studies. [karger.com]

• Movement Disorder

  She has always had a great interest in movement disorders with focus on movement disorder genetics and electrophysiology. She holds a Ph.D. degree in neurosciences from University College London. [books.google.com]

  Movement Disorders. 2008;23(2):228-33. ^ de Niet M, de Bot ST, van de Warrenburg BP, Weerdesteyn V, Geurts AC. [en.wikipedia.org]

• Leg Weakness

  “Paraparesis” indicates weakness in both legs of lesser severity than paraplegia. [rarediseases.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]

  Table 134-1 Genetic Types of HSP (updated from Fink JK, 2011) View Table | Favorite Table | Download (.pdf) Table 134-1 Genetic Types of HSP (updated from Fink JK, 2011) Spastic Gait (SPG) Locus OMIM Number Protein (genetic locus if protein is unknown [mhmedical.com]

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

  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]

• Hyperreflexia

  People with this condition can also experience exaggerated reflexes (hyperreflexia), ankle spasms, high-arched feet (pes cavus), and reduced bladder control. [icdlist.com]

  People with spastic paraplegia type 31 can also experience progressive muscle wasting (amyotrophy) in the lower limbs, exaggerated reflexes (hyperreflexia), a decreased ability to feel vibrations, reduced bladder control, and high-arched feet ( pes cavus [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]

  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]

  Neurological examination disclosed mild spasticity and weakness in the legs, hyperreflexia in all limbs, and bilateral Babinski sign. [bmcmedgenet.biomedcentral.com]

• Babinski Sign

  Neurological examination disclosed mild spasticity and weakness in the legs, hyperreflexia in all limbs, and bilateral Babinski sign. [bmcmedgenet.biomedcentral.com]

  Other common symptoms of HSP are urinary urgency and frequency, hyperactive reflexes, difficulty with balance, clonus, Babinski’s sign, diminished vibration sense in the feet, muscle spasms, and congenital foot problems such as pes cavus (high arched [sp-foundationorg.presencehost.net]

  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]

• Lower Extremity Spasticity

  HSP clinical syndromes may be limited to difficulty walking due to lower extremity spastic weakness (“uncomplicated HSP”) or may include other neurologic or systemic disturbances (“complicated HSP”). [mhmedical.com]

  […] to slowly progressive lower extremity spasticity and weakness. [research.unipd.it]

  All forms of HSP, complicated and uncomplicated, share the primary symptom of lower-extremity spastic weakness. [invitae.com]

  Non-syndromic spastic paraplegias are characterized by slowly progressive spasticity and weakness of the lower extremity, often associated with hypertonic urinary disturbances, mild reduction of lower extremity vibration sense and, occasionally, of joint [blueprintgenetics.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]

• Spastic Paralysis

  Hereditary spastic paraplegia (HSP) is an umbrella term for a group of inherited genetic neurological conditions which can be associated with a range of severe symptoms but whose clinical hallmark is spastic paralysis of the legs. [raredr.com]

  Spastic paralysis AR 33 68 AP4B1 Spastic paraplegia 47, autosomal recessive AR 17 18 AP4E1 Stuttering, familial persistent, 1, Spastic paraplegia 51, autosomal recessive AR 7 15 AP4M1 Spastic paraplegia 50, autosomal recessive AR 16 13 AP4S1 * Spastic [blueprintgenetics.com]

  Gene OMIM (Gene) Associated diseases (OMIM) Inheritance CentoMD® exclusive variant numbers (++) ALS2 606352 amyotrophic lateral sclerosis 2; Spastic paralysis, infantile onset ascending AR 20 AMPD2 102771 pontocerebellar hypoplasia 9 AR 7 AP4B1 607245 [centogene.com]

  Paralysis of the arms and legs is quadriplegia. Most paralysis is due to strokes or injuries such as spinal cord injury or a broken neck. [icdlist.com]

  Infantile ascending hereditary spastic paralysis (IAHSP): clinical features in 11 families. Neurology 2003 ; 60 : 674 –82 Marti-Fabregas J, Pujol J. [ajnr.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]

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]

As new HSP therapies emerge, genetic advancement may further contribute to improved outcomes by allowing clinicians to better personalize treatment, tailoring therapy to the individual genetic profile of each patient. 1 Diagnosing Hereditary Spastic Paraplegia [raredr.com]

Prognosis 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. [ipfs.io]

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]

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 and usually starts in the legs and spreads to other muscles, ultimately leading to confinement to bed, the prognosis for individuals with HSP varies greatly. [psychology.wikia.com]

Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies. Hum Mol Genet. PubMed PMID: 24973356 Guerreiro R, Wojtas A, Bras J, et al. TREM2 variants in Alzheimer's disease. N Engl J Med. [books.google.com]

Yet, mutations in SPG4/ SPAST represent the most frequent molecular etiology in autosomal dominant (AD) patients and sporadic cases. [bmcmedgenet.biomedcentral.com]

The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. [genecards.org]

[…] associated with immediate pain relief, improved quality of sleep and improved mobility. 1 At this point, the preponderance of clinical research related to HSP remains early-stage, focused on gaining a deeper understanding of the disease process and its etiology [raredr.com]

9p13 SPG48 : AP5Z1; 7p22 SPG 62 : ERLIN1; 10q24 SPG 75 : MAG; 19q13 SPG 76 : CAPN1; 11q13 SPG 79 : UCHL1; 4p13 Spastic Ataxia 1, Hereditary (SPAX1) 21 ● Vesicle-related membrane protein 1 (VAMP1; Synaptobrevin; SYB1) ; Chromosome 12p13.31; Dominant Epidemiology [neuromuscular.wustl.edu]

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

Synonym(s): (no synonyms) Classification (Orphanet): - Rare abdominal surgical disease - Rare developmental defect during embryogenesis - Rare genetic disease Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - Epidemiological [csbg.cnb.csic.es]

Relevant External Links for SPG11 Genetic Association Database (GAD) SPG11 Human Genome Epidemiology (HuGE) Navigator SPG11 Atlas of Genetics and Cytogenetics in Oncology and Haematology: SPG11 No data available for Genatlas for SPG11 Gene Mutations in [genecards.org]

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]

This is the first step towards the identification of a new gene crucial for understanding the underlying pathophysiology of HSP. [academic.oup.com]

Treating hereditary spastic paraplegia It isn't possible to prevent, slow or reverse hereditary spastic paraplegia, but some of the symptoms can be managed so that day-to-day activities become easier. [nhs.uk]

[…] factors), tracing the particular genetic inheritance pattern (autosomal dominant, autosomal recessive, X-linked dominant, X-linked recessive) and discovering the specific causative mutation involved in a patient’s HSP provides diagnostic certainty, prevents [raredr.com]

The majority of individuals with HSP have a normal life expectancy. [2] Treatment No specific treatment is known that would prevent, slow, or reverse HSP. [ipfs.io]

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]

No treatments are currently available to prevent, stop, or reverse HSP. [sp-foundationorg.presencehost.net]