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Autosomal Dominant Spastic Paraplegia Type 36

Autosomal Dominant Spastic Paraplegia 36


Presentation

  • Each entry follows a 5 section structure that will cover (1) essential features of the disorder (2) physiological basis of the disorder (3) neuropsychological and other clinical presentation (4) assessment and diagnostic practices (5) evidence-based treatments[books.google.de]
  • ORPHA:320365 Synonym(s): SPG36 Prevalence: Inheritance: Autosomal dominant Age of onset: Adolescent, Adult ICD-10: G11.4 OMIM: 613096 UMLS: C2936879 MeSH: - GARD: - MedDRA: - The documents contained in this web site are presented for information purposes[orpha.net]
  • 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]
  • Asymptomatic patients are also present.[emedicine.medscape.com]
Weakness
  • […] disease Autosomal dominant spastic paraplegia type 36 Disease definition A complex form of hereditary spastic paraplegia, characterized by an onset in childhood or adulthood of progressive spastic paraplegia (with spastic gait, spasticity, lower limb weakness[orpha.net]
  • 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]
  • Fazio-Londe disease manifests itself in childhood as rapidly progressive weakness of the tongue, face, and pharyngeal muscles, as well as progressive upper limb weakness. No hearing impairment is seen.[emedicine.medscape.com]
  • 2005, Vol.11, No.3 doi: 10.1212/01.CON.0000293721.86238.6a Article Article Related Links Abstract Hereditary spastic paraplegia (HSP) is a clinically and genetically heterogeneous group of motor disorders characterized by bilateral leg spasticity and weakness[journals.lww.com]
  • Table 1 Clinical manifestations of Hereditary spastic paraplegia in members of the Siberian family Age at Onset, yrs 29 26 27 37 10 Age at Exam, yrs 62 43 59 39 17 Presenting feature Weakness spasticity Weakness spasticity Muscle weakness Muscle weakness[bmcneurol.biomedcentral.com]
Physician
  • This book makes readily available current knowledge on the subject and applies it to clinical medicine, providing information essential to neurologists, geneticists, physicians and pediatricians as they search for the causes of mental handicap in their[books.google.de]
  • In 2007 he received the Distinguished Physician Award from the American Association of Neuromuscular and Electrodiagnostic Medicine. Lahey Clinic’s Medical Staff Association recognized Dr.[books.google.com]
  • *Medscape Business of Medicine Academy Survey, September 2015 Learn from Experienced Professionals Courses were developed especially for physicians by business health experts and experienced physicians.[medscape.org]
  • This information is not intended to be patient education, does not create any patient-physician relationship, and should not be used as a substitute for professional diagnosis and treatment.[diseaseinfosearch.org]
  • Signs are the objective evidence of the disorder, documented, for example by physician examination, laboratory studies, or magnetic resonance images (MRI).[rarediseases.org]
Developmental Delay
  • Recent advances in neuroscience and genetics have greatly expanded our understanding of the brain and of the etiological factors involved in developmental delay and mental retardation.[books.google.de]
  • In other cases of the 15q11 microdeletion reported thus far, the following clinical signs were observed: mental retardation and/or developmental delay with hypotonia, congenital abnormalities, autism, developmental delay, motor and language disturbances[omicsonline.org]
  • Warburg M: Visual impairment among people with developmental delay. J Intellect Dis Res 1994;38:423–432. Evenhuis HM: Medical aspects of ageing in a population with intellectual disability. II. Hearing impairment. J Intellect Dis Res 1995;39:27–33.[karger.com]
  • Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly.[ncbi.nlm.nih.gov]
Falling
  • . : Klinischer bericht uber den siebenten fall von spasticher paraplegie in einer familie und ergebnis der dritten autopsie aus der selben familie . Deutsche Ztschr Nervenh 42:419–431, 1911.[link.springer.com]
  • Zimbabwe : Bulawayo, Harare, Mutare, Victoria Falls, etc.[maria-online.com]
  • As they get older or manifest locomotor dysfunction, normal flies no longer climb to the top of the vial, but instead make short, abortive climbs and fall back to the bottom of the vial.[jci.org]
  • Nineteen per cent of the affected family members (28/151) complained of gait unsteadiness or falls, and 5% (8/151) suffered from pain in the lower limbs.[academic.oup.com]
Malnutrition
  • Nutrition in CKD : 5th edition [PDF] Malnutrition in chronic kidney disease (CKD) is common but is often undiagnosed. This evidence-based clinical practice guideline summarises the main interventions that may be recommended in the...[evidence.nhs.uk]
Visual Impairment
  • Warburg M: Visual impairment among people with developmental delay. J Intellect Dis Res 1994;38:423–432. Evenhuis HM: Medical aspects of ageing in a population with intellectual disability. II. Hearing impairment. J Intellect Dis Res 1995;39:27–33.[karger.com]
  • Additional features include cerebellar ataxia, peripheral neuropathy, amyotrophy, extrapyramidal symptoms, cognitive impairment, deafness and visual impairment [1] .[journals.plos.org]
Muscular Atrophy
  • Darras is site PI for the consortium conducting Pediatric Neuromuscular Clinical Research in Spinal Muscular Atrophy, and site PI/PD for the NeuroNEXT NINDS Program.[books.google.com]
  • Spinal muscular atrophy The mortality and morbidity of spinal muscular atrophy (SMA) are inversely correlated with the age at onset.[emedicine.medscape.com]
  • Google Scholar [12] Harding A.E., Thomas P.K. : Peroneal muscular atrophy with pyramidal features . J Neurol Neurosurg Psychiatry 47:168–172, 1984.[link.springer.com]
  • atrophy type 1 Proximal spinal muscular atrophy type 2 Proximal spinal muscular atrophy type 3 Proximal spinal muscular atrophy type 4 Senior-Loken syndrome 17q11 microdeletion syndrome Familial melanoma Noonan syndrome 17p13.3 microduplication syndrome[csbg.cnb.csic.es]
  • The peroneal type of progressive muscular atrophy. London: Lewis, 1886.[tankonyvtar.hu]
Myopathy
  • […] research laboratories of Boston Children’s and other institutions, focuses on the description of novel mutations in patients with neuromuscular diseases and the application of new technologies to explore the pathogenesis and treatment of congenital myopathies[books.google.com]
  • Another DNM2 -associated disease, autosomal-dominant Centronuclear myopathy, is a slowly progressive congenital myopathy characterized by delayed motor milestones, generalized muscle weakness, ptosis, and ophthalmoplegia [ 14 ].[bmcneurol.biomedcentral.com]
  • Amyotrophic lateral sclerosis Adult-onset distal myopathy due to VCP mutation Behavioral variant of frontotemporal dementia Progressive non-fluent aphasia Semantic dementia Spastic paraplegia - Paget disease of bone Giant cell glioblastoma Gliosarcoma[csbg.cnb.csic.es]
  • . : Myopathy with multiple central cores. A case with hypersensitivity to pyrexia . Neuropädiatrie 9:239–244, 1978. Google Scholar [11] Harding A.E. : Classification of the hereditary ataxias and paraplegias . Lancet i:1151–1155, 1983.[link.springer.com]
  • , and infectious myopathy.[emedicine.medscape.com]
Muscle Spasticity
  • spasticity Drugs & Therapeutics for Spastic Paraplegia 24, Autosomal Recessive Genetic Tests for Spastic Paraplegia 24, Autosomal Recessive Anatomical Context for Spastic Paraplegia 24, Autosomal Recessive MalaCards organs/tissues related to Spastic[malacards.org]
  • 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]
Proximal Muscle Weakness
  • muscle weakness in the lower limbs 54% (113/208) Distal muscle weakness in the lower limbs 36% (64/179) Distal muscle wasting 9% (16/176) Decreased vibration sense at ankles (abolished) 58% (111/208) (11% 24/208) Urinary urgency/incontinence 38% (74[academic.oup.com]
Urinary Urgency
  • urgency) associated with the additional manifestation of peripheral sensorimotor neuropathy.[orpha.net]
  • urgency List of possible causes of Urinary urgency or similar symptoms may include: 2 Acute bacterial prostatitis (urinary urgency) Anuria (Urinary urgency) Ataxia, spastic, type 3, autosomal recessive (Urinary urgency) Ataxia (urinary urgency) Autosomal[familydiagnosis.com]
  • Medications such as oxybutynin may reduce urinary urgency. If urinary urgency is severe or accompanied by difficulty initiating urination, consultation with a urologist is recommended.[rarediseases.org]
  • - - Bladder Control Urinary urgency normal Urinary urgency normal normal Pes cavus Ulcerations on legs no no no no Outcome Bedridden Ambulatory Wheelchair Ambulatory Ambulatory At examination (Table 1 ), a single patient had mild developmental cognitive[bmcneurol.biomedcentral.com]
  • Pyramidal signs were variably associated with several clinical features that are often observed in pure spastic paraplegia, such as decreased vibration sense in the lower limbs (58%), urinary urgency (38%), pes cavus (21%) and scoliosis (5%).[academic.oup.com]
Incontinence
  • “urgent urination” or whether it might be “ frequent urination ” (with or without a significant need or urge), “ excessive urination ” or “ large urine volume ” (frequent voiding of large amounts), or other bladder control symptoms such as “ urinary incontinence[familydiagnosis.com]
  • 62% (87/141) Proximal muscle weakness in the lower limbs 54% (113/208) Distal muscle weakness in the lower limbs 36% (64/179) Distal muscle wasting 9% (16/176) Decreased vibration sense at ankles (abolished) 58% (111/208) (11% 24/208) Urinary urgency/incontinence[academic.oup.com]
  • He had symptoms of a neurogenic bladder, without incontinence. Electroencephalography (EEG), electromyography (EMG) and nerve conduction velocities (NCV) were normal.[journals.plos.org]
Spastic Paraplegia
  • Homepage Rare diseases Search Search for a rare disease Autosomal dominant spastic paraplegia type 36 Disease definition A complex form of hereditary spastic paraplegia, characterized by an onset in childhood or adulthood of progressive spastic paraplegia[orpha.net]
  • Genes and mapped phenotypes Gene ID: 791228, updated on 8-Apr-2017 Summary Official Symbol SPG36 provided by HGNC Official Full Name spastic paraplegia 36 (autosomal dominant) provided by HGNC Primary source HGNC:HGNC:33240 See related MIM:613096 Gene[ncbi.nlm.nih.gov]
  • 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]
  • Aliases & Classifications for Spastic Paraplegia 24, Autosomal Recessive Summaries for Spastic Paraplegia 24, Autosomal Recessive Symptoms & Phenotypes for Spastic Paraplegia 24, Autosomal Recessive Human phenotypes related to Spastic Paraplegia 24, Autosomal[malacards.org]
  • Paraplegia 10, Autosomal Dominant Spastic Paraplegia 11, Autosomal Recessive Spastic Paraplegia 12, Autosomal Dominant Spastic Paraplegia 13, Autosomal Dominant Spastic Paraplegia 15, Autosomal Recessive Spastic Paraplegia 16, X-Linked Spastic Paraplegia[familydiagnosis.com]
Peripheral Neuropathy
  • In Peripheral Neuropathy. 3rd edition, szerző: Dick P, pp. 1094–1136. Philadelphia, Pa, USA: W.B. Saunders, 1993.[tankonyvtar.hu]
  • Five patients (2 from family I, 2 from family II, and 1 from family IV) had a peripheral neuropathy diagnosed by neurography and electromyography consisting of axonal motor neuropathy.[ajnr.org]
  • HSP-SPG10 is the dominant form most commonly associated with complicated features, especially peripheral neuropathy, in up to two third of cases.[demneuropsy.com.br]
  • neuropathy), or high arches of the feet ( pes cavus ).[ghr.nlm.nih.gov]
  • Autosomal dominant spastic paraplegia with peripheral neuropathy maps to chr12q23-24.[treatneuro.com]
Spastic Gait
  • gait, spasticity, lower limb weakness, pes cavus and urinary urgency) associated with the additional manifestation of peripheral sensorimotor neuropathy.[orpha.net]
  • 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]
  • 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]
  • Lewy bodies were seen in the substantia nigra. 12 The proband manifested slowly progressive spastic gait since age 18.[demneuropsy.com.br]
  • If symptoms begin during the teenage years or later, then spastic gait disturbance usually progresses over many years.[en.wikipedia.org]
Spastic Gait
  • gait, spasticity, lower limb weakness, pes cavus and urinary urgency) associated with the additional manifestation of peripheral sensorimotor neuropathy.[orpha.net]
  • 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]
  • 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]
  • Lewy bodies were seen in the substantia nigra. 12 The proband manifested slowly progressive spastic gait since age 18.[demneuropsy.com.br]
  • If symptoms begin during the teenage years or later, then spastic gait disturbance usually progresses over many years.[en.wikipedia.org]
Hyperreflexia
  • 60 Very frequent (99-80%) 8 difficulty standing 33 HP:0003698 Symptoms via clinical synopsis from OMIM: 58 Neurologic Central Nervous System: spasticity hyperreflexia clonus difficulty standing walking on tiptoes more Clinical features from OMIM: 607584[malacards.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]
  • The key diagnostic findings are lower limb weakness, increased muscle tone, hyperreflexia, extensor plantar responses, and gait spasticity [ 2 ].[bmcneurol.biomedcentral.com]
  • 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]
  • All of them started with symptoms consisting of gait difficulties and weakness in the lower extremities, and their neurologic examination showed an upper motor neuron syndrome predominantly in the lower extremities with weakness, spasticity and hyperreflexia[ajnr.org]

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

  • […] disorders across the lifespan (pediatric, adult, and geriatric populations) Includes interventions and methods of treatment for the outcomes patients may experience[books.google.de]
  • This network is dedicated to the acceleration of clinical trials in search of effective treatments for SMA.[books.google.com]
  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]

Prognosis

  • 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]
  • 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]
  • Hereditary spastic paraplegia: 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.[maria-online.com]

Etiology

  • Recent advances in neuroscience and genetics have greatly expanded our understanding of the brain and of the etiological factors involved in developmental delay and mental retardation.[books.google.de]
  • Article / Publication Details First-Page Preview Abstract Objective: Investigation of etiological factors in mental retardation (MR).[karger.com]
  • Abstract We describe 4 siblings with spastic paraparesis and peroneal amyotrophy who were prone to severe pain and painful dysesthesias, tetraparesis and pyramidal signs during pyrexial episodes of variable etiology.[link.springer.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]

Epidemiology

  • Consequently, they are often approached together in epidemiological studies.[karger.com]
  • […] 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]
  • „Charcot-Marie-Tooth disease in Molise, a central-southern region of Italy: an epidemiological study.” Neuroepidemiology, 2002;21: 241-245.[tankonyvtar.hu]
  • 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]
Sex distribution
Age distribution

Pathophysiology

  • DESIGN This is an observational study of autosomal dominant forms of hereditary spastic paraplegia progression, pathophysiology, and biomarkers.[clinicaltrials.gov]
  • „New insights into the pathophysiology of pes cavus in Charcot-Marie-Tooth disease type 1A duplication.” J Neurol, 2011;258: 1594-602. Berciano J, Sevilla T, Casasnovas C, Sivera R, Vílchez JJ, Infante J, Ramón C, Pelayo-Negro AL, Illa I.[tankonyvtar.hu]
  • Such findings could evolve to become a valuable parameter, together with neuroimaging and other biomarkers, to help better understand the pathophysiology of the disease. Author contributions.[demneuropsy.com.br]
  • 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]
  • The results suggest that inhibited endocytosis is part of the pathophysiological mechanisms leading to HSP in this family.[bmcneurol.biomedcentral.com]

Prevention

  • Suicide prevention Everything NICE has said on preventing suicide in community and residential custodial and detention settings in an interactive flowchart Bipolar disorder Everything NICE has said on recognising, assessing and managing bipolar disorder[evidence.nhs.uk]
  • 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]
  • Conclusion: Establishing the diagnosis in older mentally retarded patients is important in the prevention of medical complications and in the development of management strategies for the institution.[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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