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Autosomal Recessive Spastic Paraplegia Type 30

Autosomal Recessive Spastic Paraplegia 30


Presentation

  • Phenotypic homogeneity of the Huntington disease-like presentation in a SCA17 family. Neurology 2006;67(9):1701-3. Schneider SA, Walker RH, Bhatia KP.[books.google.com]
  • 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]
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]
Macula
  • ., 2001 ) 14q22–q24 Complex 13-23 Yes – Intellectual deterioration, pigmented macula, CC and brainstem atrophy SPG20 ( Patel et al ., 2002 ) 13q12.3 Spartin Complex Early childhood Yes – Mental retardation, shortness of stature SPG21 ( Simpson et al .[academic.oup.com]
  • The association of hereditary spastic paraplegia and pigmentation of the macula has rarely been described.[jnnp.bmj.com]
  • This condition results from the breakdown (degeneration) of tissue at the back of the eye called the macula, which is responsible for sharp central vision.Most people with spastic paraplegia type 15 experience a decline in intellectual ability and an[icdlist.com]
Knee Pain
  • pain – caused by the muscle weakness and walking problems stress and depression Outlook The outlook for people with hereditary spastic paraplegia varies.[nhs.uk]
Emotional Lability
  • ., 2005 ) 12p11.1–12q14 – Complex 22–42 No Yes Emotional lability, tongue tremor, mild intellectual impairment SPG27 ( Meijer et al ., 2004 ; Ribai et al ., 2006 ) 10–q22.1–q24.1 – Pure, complex 2–45 Yes Yes Mental retardation, microcephaly, facial dysmorphia[academic.oup.com]
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) Clinical[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]
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]
  • All forms of HSP, complicated and uncomplicated, share the primary symptom of lower-extremity spastic weakness.[invitae.com]
  • Spastic paraplegia is a group of clinically and genetically heterogeneous neurodegenerative disorders characterized by lower extremity spasticity and weakness.[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]
  • Diagnosis HSP is diagnosed by the following: 1) typical symptoms (lower extremity spastic weakness that may be non-worsening (early childhood onset) or slowly progressive over many years; 2) findings on neurologic examination (lower extremity hyperreflexia[rarediseases.org]
Clonus
  • 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]
  • There was no voluntary movement of either leg, spontaneous clonus was present, planter responses were extensor bilaterally, and sensation was normal. His feet had pes cavus deformity.[jnnp.bmj.com]
  • He had increased reflexes in all limbs with ankles clonus and bilateral extensor plantar reflexes. There was mild wasting in the upper limbs. He reported having mild urinary urgency and painful legs. Ocular pursuit was saccadic.[academic.oup.com]
  • […] subcutaneous fat over entire body except buttocks, hips, and thighs Ocular Retinitis pigmentosa Iris deposits Spastic paraplegia Leg spasticity Bladder dysfunction Dorsal column sensory loss: Reduced vibration; Legs Arms Tendon reflexes: Brisk in legs; Clonus[neuromuscular.wustl.edu]

Workup

  • 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]

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]
  • 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]
  • 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[raredr.com]

Prognosis

  • 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]

Etiology

  • 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]

Epidemiology

  • Recessive Epidemiology: Most Caucasian; 10 patients Clinical Onset age: 8 months to 7 years Extrapyramidal Dystonia Rigidity Choreoathetosis Cerebellum: Ataxia; Nystagmus Spasticity Mental development Poor speech Mental deficiency: Mild to Severe Other[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]
Sex distribution
Age distribution

Pathophysiology

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

Prevention

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

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