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Autosomal Recessive Spastic Paraplegia Type 32

Autosomal Recessive Spastic Paraplegia 32


Presentation

  • Here, we performed a genome-wide linkage analysis on a consanguineous family presenting an autosomal recessive form of HSP associated with mild mental retardation, brainstem dysraphia, and clinically asymptomatic cerebellar atrophy.[ncbi.nlm.nih.gov]
Asymptomatic
  • Here, we performed a genome-wide linkage analysis on a consanguineous family presenting an autosomal recessive form of HSP associated with mild mental retardation, brainstem dysraphia, and clinically asymptomatic cerebellar atrophy.[ncbi.nlm.nih.gov]
Difficulty Walking
  • Paraplegia 32, Autosomal Recessive Summaries for Spastic Paraplegia 32, Autosomal Recessive Symptoms & Phenotypes for Spastic Paraplegia 32, Autosomal Recessive Symptoms via clinical synopsis from OMIM: 57 Neurologic Central Nervous System: hyperreflexia difficulty[malacards.org]
  • 60 33 (show all 19) # Description HPO Frequency Orphanet Frequency HPO Source Accession 1 intellectual disability, mild 60 33 Obligate (100%) HP:0001256 2 babinski sign 60 33 Frequent (79-30%) HP:0003487 3 pes cavus 60 33 Obligate (100%) HP:0001761 4 difficulty[malacards.org]
  • 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]
  • An early feature is difficulty walking due to spasticity and weakness, which typically affect both legs equally.[ghr.nlm.nih.gov]
  • 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]
Fishing
  • Gene Details Gene Symbol : SPG32 Gene Name : Spastic Paraplegia 32 (autosomal Recessive) Locus : 14q12-q21 FISH Probe Protocols Protocol, Procedure, or Form Name Last Modified Download Scientific Citations There are currently no FISH related citations[empiregenomics.com]
Muscle Spasticity
  • One caveat however: although early childhood-onset forms of HSP may be “non-progressive”, the degree of spasticity may increase slowly if adequate range-of-motion is not maintained through stretching exercises and muscle spasticity reduction.[rarediseases.org]
  • To date, treatment of HSPs is primarily directed symptomatically towards reducing muscle spasticity.[els.net]
  • Treatment for HSP is presently limited to symptomatic reduction of muscle spasticity, reduction in urinary urgency, and strength and gait improvement through physical therapy.[link.springer.com]
Lower Limb Muscle Weakness
  • limb muscle weakness 32 HP:0007340 11 ankle clonus 32 HP:0011448 Drugs & Therapeutics for Spastic Paraplegia 32, Autosomal Recessive Genetic Tests for Spastic Paraplegia 32, Autosomal Recessive Anatomical Context for Spastic Paraplegia 32, Autosomal[malacards.org]
  • limb muscle weakness 33 HP:0007340 11 impaired vibration sensation in the lower limbs 60 Frequent (79-30%) 12 ankle clonus 33 HP:0011448 13 progressive spastic paraplegia 60 Frequent (79-30%) 14 spastic gait 33 HP:0002064 15 cerebellar cortical atrophy[malacards.org]
Impulsivity
  • Payment needs, please contact us and IF YOU HAVE ANY QUESTIONS PLEASE FEEL FREE TO Call us @ 248-521-7777 thanks DC-testing up to 32 kV » Prelocating - Re ection measurement - ARM measurement (Arc Re ection Method) up to 32 kV - Decay up to 32 kV - ICE Impulse[picclick.com]
  • Technical features »» DC-testing up to 32 kV »» Prelocating - Reflection measurement - ARM measurement (Arc Reflection Method) up to 32 kV - Decay up to 32 kV - ICE Impulse Current Method 0…4 / 8 / 16 / 32 kV »» Burning (fault conditioning) up to 32 kV[distek.ro]
  • Prelocation Impulse Current Method The surge generator ignites an arc at the fault which creates a travelling wave between the fault and the surge generator. The TDR Teleflex displays this transient wave which indicates the distance to the fault.[rental.no]
Spastic Gait
  • gait 32 HP:0002064 7 hypoplasia of the corpus callosum 32 HP:0002079 8 difficulty walking 32 HP:0002355 9 babinski sign 32 HP:0003487 10 lower limb muscle weakness 32 HP:0007340 11 ankle clonus 32 HP:0011448 Drugs & Therapeutics for Spastic Paraplegia[malacards.org]
  • gait 33 HP:0002064 15 cerebellar cortical atrophy 60 Frequent (79-30%) 16 abnormality of the pons 60 Frequent (79-30%) 17 lower limb hyperreflexia 60 Frequent (79-30%) 18 progressive peripheral neuropathy 60 Frequent (79-30%) 19 cerebral atrophy 33 HP[malacards.org]
  • gait Causes List for Spastic gait List of possible causes of Spastic gait or similar symptoms may include: 2 Amyotrophic Lateral Sclerosis type 2, Juvenile (Spastic gait) Amyotrophic lateral sclerosis type 2 (Spastic gait) Ataxia (Spastic gait) Autosomal[familydiagnosis.com]
  • Get Update Overview SPG30 is an autosomal recessive form of slowly progressive spastic paraplegia characterized by onset in the first or second decades of unsteady spastic gait and hyperreflexia of the lower limbs.[diseaseinfosearch.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]
Hyperreflexia
  • 60 Frequent (79-30%) 18 progressive peripheral neuropathy 60 Frequent (79-30%) 19 cerebral atrophy 33 HP:0002059 Symptoms via clinical synopsis from OMIM: 58 Neurologic Central Nervous System: hyperreflexia difficulty walking cerebellar atrophy lower[malacards.org]
  • Spastic Paraplegia 32, Autosomal Recessive Summaries for Spastic Paraplegia 32, Autosomal Recessive Symptoms & Phenotypes for Spastic Paraplegia 32, Autosomal Recessive Symptoms via clinical synopsis from OMIM: 57 Neurologic Central Nervous System: hyperreflexia[malacards.org]
  • Get Update Overview SPG30 is an autosomal recessive form of slowly progressive spastic paraplegia characterized by onset in the first or second decades of unsteady spastic gait and hyperreflexia of the lower limbs.[diseaseinfosearch.org]
  • On exam, both have bradykinesia, dystonia, hyperreflexia, increased tone, and spastic/ataxic gait, though sister’s symptoms are less severe.[mdsabstracts.org]
  • Occasional patients with this form had upper extremity hyperreflexia, pes cavus and sphincter disturbances, even at the early stages.[thieme-connect.com]
Babinski Sign
  • sign 32 HP:0003487 10 lower limb muscle weakness 32 HP:0007340 11 ankle clonus 32 HP:0011448 Drugs & Therapeutics for Spastic Paraplegia 32, Autosomal Recessive Genetic Tests for Spastic Paraplegia 32, Autosomal Recessive Anatomical Context for Spastic[malacards.org]
  • 32, Autosomal Recessive Human phenotypes related to Spastic Paraplegia 32, Autosomal Recessive: 60 33 (show all 19) # Description HPO Frequency Orphanet Frequency HPO Source Accession 1 intellectual disability, mild 60 33 Obligate (100%) HP:0001256 2 babinski[malacards.org]
  • Neurological examination at age 52 showed ataxic dysarthria, exaggerated patellar and Achilles tendon reflexes without Babinski signs and lower limb ataxia. His gait was wide-based and staggering.[nature.com]
  • 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]
Clonus
  • Autosomal Recessive Symptoms & Phenotypes for Spastic Paraplegia 32, Autosomal Recessive Symptoms via clinical synopsis from OMIM: 57 Neurologic Central Nervous System: hyperreflexia difficulty walking cerebellar atrophy lower limb spasticity ankle clonus[malacards.org]
  • (79-30%) 7 spastic paraplegia 33 HP:0001258 8 cerebellar atrophy 33 HP:0001272 9 progressive spasticity 60 Frequent (79-30%) 10 lower limb muscle weakness 33 HP:0007340 11 impaired vibration sensation in the lower limbs 60 Frequent (79-30%) 12 ankle clonus[malacards.org]
  • Neither ankle nor knee clonus was observed. He had no involuntary movements, rigidity or bradykinesia. Truncal and limb ataxia appeared exacerbated. He showed a marked staggering and could not walk without holding on to something.[nature.com]
  • 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]
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]
  • extremity spasticity and weakness.[flybase.org]
  • 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]
  • Pure HSPs are characterized by slowly progressive lower extremity spasticity and weakness, corticospinal tract signs, variable hypertonic urinary disturbances, and mild reduction of lower extremity vibration sense and proprioception.[ng.neurology.org]
  • Given that both of these disorders are treatable, dopa-responsive dystonia should be excluded in a child with progressive gait disturbance and lower-extremity spasticity of unknown etiology, whereas arginase deficiency should be considered in a young[emedicine.medscape.com]

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.ro]
  • Fatemi Oxford University Press, ١٨‏/٠٨‏/٢٠١٦ - 1488 من الصفحات The second edition of Neurobiology of Disease includes nearly 200 articles surveying all major disorders of the nervous system in both adults and children, focusing on relevant diagnosis and treatments[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]
  • Standard Therapies Treatment: management of symptoms Despite encouraging progress in many research laboratories (see reference 7 for example), treatment for HSP is presently limited to reducing symptoms of muscle weakness, spasticity, and urinary urgency[rarediseases.org]
  • 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]

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]
  • This distinction is important for genetic counseling of family members and for the patient’s prognosis, in that HSP generally carries a more favorable prognosis. [2] Other components of the differential diagnosis of HSP are similar to those of PLS.[emedicine.medscape.com]
  • […] inversely correlated with quality of life in a previous study. 31 As the majority of patients in our cohort who met the clinical criteria for HSP did not have a genetic diagnosis, this illustrates the need for studies of clinical parameters which influence prognosis[ng.neurology.org]

Etiology

  • Accordingly, plasma oxysterols are biomarkers that should be included in the screening of any spastic paraplegia of unknown etiology.[oxfordmedicine.com]
  • Risch N et al. (1999) A genomic screen of autism: evidence for a multilocus etiology. [ ] 26.[moldiag.com]
  • Primary lateral sclerosis The etiology of primary lateral sclerosis (PLS) is unknown, but it may be similar to that proposed for ALS.[emedicine.medscape.com]
  • 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]
  • Keppen LD, Leppert MF, O'Connell P et al : Etiological heterogeneity in X-linked spastic paraplegia. Am J Hum Genet 1987; 41 : 933–943. 8. Schule R, Schols L : Genetics of hereditary spastic paraplegias. Semin Neurol 2011; 31 : 484–493. 9.[doi.org]

Epidemiology

  • Consequently, they are often approached together in epidemiological studies.[karger.com]
  • Genetic epidemiology of autosomal recessive spastic ataxia of Charlevoix-Saguenay in northeastern Quebec. Genet Epidemiol. 1993 ; 10 : 17 – 25. 27. Hara, K, Onodera, O, Endo, M, Kondo, H, Shiota, H, Miki, K, et al.[cambridge.org]
  • Jorde LB et al. (1990) The UCLA-University of Utah epidemiologic survey of autism: genealogical analysis of familial aggregation. [ ] 6. Abramson RK et al. (1989) Elevated blood serotonin in autistic probands and their first-degree relatives. [ ] 7.[moldiag.com]
  • Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analyses . J Hum Genet 2014; 59 : 163–172.[nature.com]
  • Epidemiology Worldwide, the prevalence of all hereditary spastic paraplegias combined is estimated to be 2 to 6 in 100,000 people. [15] A Norwegian study of more than 2.5 million people published in March 2009 has found an HSP prevalence rate of 7.4/100,000[ipfs.io]
Sex distribution
Age distribution

Pathophysiology

  • 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]
  • This is the first step towards the identification of a new gene crucial for understanding the underlying pathophysiology of HSP.[academic.oup.com]
  • Pathophysiological insights into ALS with C9ORF72 expansions. Journal of Neurology, Neurosurgery and Psychiatry , 84(8), 931-935.[sydney.edu.au]

Prevention

  • 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]
  • 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]
  • 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]
  • Bjorkhem, Sulphatation does not appear to be a protective mechanism to prevent oxysterol accumulation in humans and mice. PLoS One, 2013. 8(7): p. e68031. Martin, E.*, R. Schule*, K. Smets*, A. Rastetter, A. Boukhris, J.L. Loureiro, M.A.[hih-tuebingen.de]

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