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Infantile-Onset Ascending Hereditary Spastic Paralysis

IAHSP


Presentation

  • Abstract We studied 15 patients, from 10 families, who presented with severe spastic paralysis with an infantile onset and an ascending progression.[ncbi.nlm.nih.gov]
  • We analyzed ALS2, recently found mutated in consanguineous Arabic families presenting either an ALS2 phenotype or juvenile-onset primary lateral sclerosis (JPLS), as a candidate gene.[plu.mx]
  • We studied 15 patients, from 10 families, who presented with severe spastic paralysis with an infantile onset and an ascending progression.[uniprot.org]
  • Individual disorders are analyzed by age of onset, with attention given to disorders present in utero, in the newborn, in the infant, and the adolescent, making this a practical and comprehensive guide for any healthcare professional.[books.google.com]
Pathologist
  • The rehabilitation team may include but is not limited to nurses, physiotherapists, occupational therapists, speech-language pathologists, music therapists, and psychologists.[wikivisually.com]
Hand Muscle Weakness
  • Symptoms of these disorders vary and may include numbness and tingling in the feet and hands, muscle weakness (especially in the distal muscles), scoliosis, thin lower legs, foot...[goldbamboo.com]
Cervical Enlargement
  • It is about 45 cm long in men and around 43 cm in women, ovoid-shaped, the cervical enlargement, located from C5 to T1 spinal segments, is where sensory input comes from and motor output goes to the arms.[wikivisually.com]
Hyperreflexia
  • Early symptoms include exaggerated reflexes (hyperreflexia) and recurrent muscle spasms in the legs. As the condition progresses, affected children develop abnormal tightness and stiffness in the leg muscles and weakness in the legs and arms.[ghr.nlm.nih.gov]
  • People with this condition can also experience exaggerated reflexes (hyperreflexia), ankle spasms, high-arched feet (pes cavus), and reduced bladder control.[icdlist.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]
  • UMN signs include hyperreflexia, extensor plantar response, increased muscle tone, and weakness in a topographical representation. ALS1.[cmm.ucsd.edu]
Babinski Sign
  • sign 0003487 Dysphagia Poor swallowing Swallowing difficulties Swallowing difficulty [ more ] 0002015 Infantile onset Onset in first year of life Onset in infancy [ more ] 0003593 Motor delay 0001270 Muscle weakness Muscular weakness 0001324 Pes cavus[rarediseases.info.nih.gov]
  • Lower motor neuron loss causes initially increased electrical excitability leading to fasciculations, and later muscle weakness and atrophy; upper motor neuron involvement causes spasticity, clonus, hyperactive tendon reflexes, and Babinski signs.[neuropathology-web.org]
Meningism
  • The spinal cord are protected by three layers of tissue or membranes called meninges, that surround the canal, the dura mater is the outermost layer, and it forms a tough protective coating.[wikivisually.com]
Cognitive Deficit
Dysphasia
  • Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia - Hemiplegia / diplegia / hemiparesia / limb palsy - Hypereflexia - Hypertonia / spasticity / rigidity / stiffness - Pyramidal syndrome - Speech troubles / aphasia / dysphasia[csbg.cnb.csic.es]

Workup

Treponema Pallidum
  • This condition was initially thought to be associated with infectious agents (such as Treponema pertenue and Treponema pallidum which cause inflammation of the central nervous system) and with chronic nutritional deficiencies (such as avitaminosis) or[goldbamboo.com]

Treatment

  • 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]
  • You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.[rarediseases.info.nih.gov]
  • - Tags: Diseases & Disorders Original Title: Infantile-Onset Ascending Hereditary Spastic Paralysis - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers Description: - See Also Rent e-books online Depression : Diagnosis & Treatment[wereadthem.cf]
  • Tests * Home Ear Infection Tests * Home Flu Tests Prognosis - Hereditary spastic paralysis- infantile onset ascending Prognosis of Hereditary spastic paralysis, infantile onset ascending: usually wheelchair bound by late childhood or early adolescence Treatment[checkorphan.org]
  • Suzanne O'Sullivan 05 Apr 2018 Hardback 17,36 21,50 Save 4,14 Add to basket 35% off Deep Medicine Eric Topol 11 Jul 2019 Hardback 20,14 31,40 Save 11,26 Add to basket Three-Dimensional Treatment for Scoliosis Christa Lehnert-Schroth 30 Sep 2000 Paperback[bookdepository.com]

Prognosis

  • Diagnosis - Hereditary spastic paralysis- infantile onset ascending Cold & Flu: Home Testing: * Home Fever Tests * Home Ear Infection Tests * Home Flu Tests Prognosis - Hereditary spastic paralysis- infantile onset ascending Prognosis of Hereditary spastic[checkorphan.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 variant is called progressive bulbar palsy and has a worse prognosis. Some ALS patients have only lower motor neuron involvement (progressive muscular atrophy). Frontotemporal dementia develops in a significant proportion of ALS patients.[neuropathology-web.org]
  • Prognosis This varies widely, but most often HSP is compatible with a normal life expectancy. The rate of progression varies considerably and is influenced by the mode of inheritance.[encyclopedia.com]

Etiology

  • 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. {ECO:0000269 PubMed:11586298}.[genecards.org]
  • 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]
  • […] malformation syndrome Spondylocostal dysostosis-hypospadias-intellectual disability syndrome Spondyloepiphyseal dysplasia tarda, Kohn type Spondyloepiphyseal dysplasia, Nishimura type Sporadic Creutzfeldt-Jakob disease Sporadic adult-onset ataxia of unknown etiology[se-atlas.de]

Epidemiology

  • […] dementia Progressive non-fluent aphasia Semantic dementia Spastic paraplegia - Paget disease of bone Synonym(s): - IAHSP Classification (Orphanet): - Rare genetic disease - Rare neurologic disease Classification (ICD10): - Diseases of the nervous system - Epidemiological[csbg.cnb.csic.es]
  • Relevant External Links for ALS2 Genetic Association Database (GAD) ALS2 Human Genome Epidemiology (HuGE) Navigator ALS2 Atlas of Genetics and Cytogenetics in Oncology and Haematology: ALS2 No data available for Genatlas for ALS2 Gene Infantile-onset[genecards.org]
  • The majority of individuals with HSP have a normal life expectancy. [16] Epidemiology [ edit ] Worldwide, the prevalence of all hereditary spastic paraplegias combined is estimated to be 2 to 6 in 100,000 people. [34] A Norwegian study of more than 2.5[en.wikipedia.org]
  • Polo AE, Calleja J, Combarros O, Bericiano J: Hereditary ataxias and paraplegias in Cantabria,Spain: an epidemiological and clinical study . Brain 1991, 114 :855–856. PubMed CrossRef Google Scholar 6.[link.springer.com]
  • An epidemiological and clinical study. Brain. 1991, 114 (Pt 2): 855-866.[ojrd.biomedcentral.com]
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]
  • In accordance with this pathophysiological assumption and previous studies [ 11, 15 ], in our cohort of SPG4 patients MEPs to the arms were normal.[ojrd.biomedcentral.com]

Prevention

  • Review of the pertinent literature indicates a fairly homogeneous clinical picture in IAHSP that should facilitate molecular confirmation and prevention of long-term complications.[ncbi.nlm.nih.gov]
  • Prevention - Hereditary spastic paralysis- infantile onset ascending Not supplied.[checkorphan.org]
  • An isometric contraction of a muscle generates tension without changing length, an example can be found when the muscles of the hand and forearm grip an object, the joints of the hand do not move, but muscles generate sufficient force to prevent the object[wikivisually.com]
  • Supportive care includes physical therapy, which helps to improve muscle strength, range of motion, prevent contractures of joints, and bedsores.[encyclopedia.com]

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