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]

• Weakness

  This means they have other symptoms in addition to the muscle weakness and spasticity. They may have a wide range of symptoms. [nhs.uk]

  An early feature is difficulty walking due to spasticity and weakness, which typically affect both legs equally. [icdlist.com]

  […] spasticity and weakness. [sp-foundationorg.presencehost.net]

  Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. [genecards.org]

  Although the disorder is typically referred to as hereditary spastic paraplegia the degree of weakness is variable and ranges from no weakness (full strength) to marked weakness (paraplegia). [rarediseases.org]

• Pathologist

  PMID: 24603320 Assay Assay and technical information Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion [invitae.com]

• Muscular Atrophy

  Atrophy AR 5.2 17 of 91 SMN2 Spinal Muscular Atrophy AR 7.6 0 of 3 SNAP25 Congenital Myasthenic Syndromes AD 100 6 of 6 SOX10 Peripheral Demyelinating Neuropathy, Waardenburg Syndrome AD 99.74 139 of 147 STAC3 Native American Myopathy AR 99.98 5 of 5 [igenomix.es]

  Mutations in BICD2 cause a complex neurological phenotype consisting of major features of congenital spinal muscular atrophy and hereditary spastic paraplegia 8. [centogene.com]

  […] corpus callosum is characterized by normal motor development, slowly progressive spastic paraparesis, and dementia developing from the early second decade along with various complicated symptoms such as spastic tetraplegia, muscular atrophy, extrapyramidal [neurologyindia.com]

• Muscle Spasticity

  Hereditary Spastic Paraplegia (HSP) is a group of rare, inherited neurological disorders. Their primary symptoms are progressive spasticity and weakness of the leg and hip muscles. [sp-foundationorg.presencehost.net]

  Spasticity primarily affects muscles of leg extension (quadriceps), knee flexion (hamstrings), hip adduction (bringing the knees together, thigh adductor muscles), and muscles that extend the feet (gastrocnemius-soleus [Achilles tendon]). [rarediseases.org]

  View Article PubMed Google Scholar Bohannon RW, Smith MB: Interrater reliability of a modified Ashworth scale of muscle spasticity. Phys Ther. 1987, 67: 206-207. [bmcmedgenet.biomedcentral.com]

  A recessive form of spastic paraplegia with distal muscle wasting. Arch Neurol 1967, 16 :473–485. PubMed Google Scholar 55. [link.springer.com]

• Leg Weakness

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

• Ataxia

  Discussion ARSACS is increasingly recognized worldwide and considered to be one of the most frequent types of spastic ataxia after Friedreich ataxia and ataxia telangiectasia [5, 9]. ª 2016 The Authors. [docplayer.net]

  Friedreich ataxia was the most frequent AR-HCA, followed by ataxia with oculomotor apraxia or ataxia-telangiectasia. [karger.com]

  […] maneuver Hydrocephalus: Some patients May be associated with: Townes-Brocks Syndrome External link Arnold-Chiari malformation + Hydromyelia Cerebellar vermis projects below foramen magnum (Arrow) From: Simon Kornberg Canine ACM + Hydromyeli a Spastic Ataxia [neuromuscular.wustl.edu]

  Ataxia was observed in 57% of all patients. We found that null mutations were associated with the co-occurrence of cerebellar ataxia (trend with P = 0.06). [hspersunite.org.au]

  We also thank the MRC and ataxia UK. [synapse.koreamed.org]

• Peripheral Neuropathy

  There are also rare, complicated forms, which have additional symptoms, such as peripheral neuropathy, ichtyosis (a skin disorder) epilepsy, ataxia, optic neuropathy, retinopathy, dementia, mental retardation, deafness, or problems with speech, swallowing [sp-foundationorg.presencehost.net]

  The first symptoms are typically balance problems before the age of 5 years in most cases, followed by spasticity and axonal- sensorimotor peripheral neuropathy in their teens. [docplayer.net]

  neuropathy SPG33 610244 ZFYVE27/protrudin Uncomplicated HSP SPG36 613096 (12q23-24) Onset age 14 to ... [mhmedical.com]

  Complicated hereditary spastic paraplegia In complicated hereditary spastic paraplegia, additional symptoms may include: nerve damage in the feet or other extremities (peripheral neuropathy) epilepsy problems with balance, co-ordination and speech (ataxia [nhs.uk]

  Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal [genecards.org]

• Cerebellar Ataxia

  There was no evidence of cerebellar ataxia on examination. She exhibited no cognitive impairment. Brain MRI demonstrated TCC and cerebellar atrophy ( Fig. 1B ), which correlated with disease severity in the affected members. [synapse.koreamed.org]

  Palau F, Espinós C: Autosomal recessive cerebellar ataxias. Orphanet J Rare Dis 2006;1:47. le Ber I, Brice A, Dürr A: New autosomal recessive cerebellar ataxias with oculomotor apraxia. Curr Neurol Neurosci Rep 2005;5: 411-417. [karger.com]

  Key Clinical Message Autosomal recessive spastic ataxia of Charlevoix-Saguenay is a rare disorder outside Quebec causing childhood-onset cerebellar ataxia, peripheral neuropathy, and pyramidal tract signs. [docplayer.net]

  Also seizures, cerebellar ataxia, speech and swallowing problems, extra pyramidal signs and skeletal deformities may occur. [neurology.org]

  Ataxia was observed in 57% of all patients. We found that null mutations were associated with the co-occurrence of cerebellar ataxia (trend with P = 0.06). [hspersunite.org.au]

• 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]

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]

• White Matter Lesions

  The T2 high-signal-intensity lesions in the white matter were present in 6 of 9 patients (67%), all members of families I and III. Those white matter lesions were mild and located in the periventricular white matter and centrum semiovale. [ajnr.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]