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]

• Fatigue

  14,00 € Save 0,84 € Add to basket 40% off You Are Not Your Pain Danny Penman 27 Mar 2015 Paperback 12,83 € 21,60 € Save 8,77 € Add to basket 5% off The HPV Vaccine On Trial Mary Holland 02 Oct 2018 Paperback 17,99 € 18,99 € Save 1,00 € Add to basket Fatigue [bookdepository.com]

  "Fatigue in neurological disorders". Lancet. 363 (9413): 978–988. doi : 10.1016/S0140-6736(04)15794-2. ISSN 1474-547X. PMID 15043967. ^ "Hereditary spastic paraplegia". nhs.uk. 2017-10-18. Retrieved 2018-01-28. ^ Fink JK (2003). [en.wikipedia.org]

• Muscle Weakness

  weakness * Progressive muscle stiffness * Stiff leg muscles by age of 2 * Weak leg muscles by age of 2 * Arm weakness by age of 8 * Arm stiffness by age of 8 * Slow eye movements by early adolescence * Speech difficulty by early adolescence * Swallowing [checkorphan.org]

  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]

  Over time, muscle weakness and stiffness travels up (ascends) the body from the legs to the head. [diseaseinfosearch.org]

  Most people experience a decline in intellectual ability and an increase in muscle weakness and nerve abnormalities over time. [icdlist.com]

• Incontinence

  Pes cavus High-arched foot 0001761 Progressive Worsens with time 0003676 Scoliosis Abnormal curving of the spine 0002650 Slow progression Signs and symptoms worsen slowly with time 0003677 Slow saccadic eye movements Slow eye movements 0000514 Urinary incontinence [rarediseases.info.nih.gov]

• Urinary Incontinence

  incontinence Loss of bladder control 0000020 Showing of 26 | Last updated: 5/1/2019 Making a diagnosis for a genetic or rare disease can often be challenging. [rarediseases.info.nih.gov]

• Spastic Paralysis

  Preferred Name Hereditary spastic paralysis, infantile onset ascending Synonyms Spastic Paralysis, Infantile-Onset Ascending ID http://purl.bioontology.org/ontology/MESH/C537217 altLabel Spastic Paralysis, Infantile-Onset Ascending Spastic Paralysis, [purl.bioontology.org]

  Resources - Hereditary spastic paralysis- infantile onset ascending Not supplied. [checkorphan.org]

  More Symptoms of Infantile-onset ascending hereditary spastic paralysis » Genetics of Infantile-onset ascending hereditary spastic paralysis Names and Terminology Other Names for This Condition IAHSP infantile-onset ascending hereditary spastic paraplegia [familydiagnosis.com]

• Paresis

  Like previously described cases, the patient presented with severe spastic paraparesis and showed rapid progression of paresis to the upper limbs. He also developed bulbar involvement and severe scoliosis during childhood. [ncbi.nlm.nih.gov]

  Results: Like previously described cases, the patient presented with severe spastic paraparesis and showed rapid progression of paresis to the upper limbs. He also developed bulbar involvement and severe scoliosis during childhood. [eprints.uniss.it]

  Blood DNA analyses werecombined with mRNA studies in cultured skin fibroblasts.Results: Like previously described cases, the patient presented with severe spastic para-paresis and showed rapid progression of paresis to the upper limbs. [documents.tips]

  Keratoderma with mental retardation and spastic paraplegia Macular corneal dystrophy Paresis of lower extremity Parkinsonism due to hereditary spastic paraplegia Paroxysmal choreoathetosis Paroxysmal dystonia Paroxysmal dystonic choreoathetosis with [icdlist.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]

  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]

  Showing of 26 | 80%-99% of people have these symptoms Abnormal pyramidal sign 0007256 Anarthria Loss of articulate speech 0002425 Dysarthria Difficulty articulating speech 0001260 Hyperreflexia Increased reflexes 0001347 Impaired mastication Chewing difficulties [rarediseases.info.nih.gov]

  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]

• Quadriplegia

  Paralysis of the arms and legs is quadriplegia. Most paralysis is due to strokes or injuries such as spinal cord injury or a broken neck. [icdlist.com]

  Examination reveals upper motor neuron findings of pseudobulbar palsy and spastic quadriplegia, without dementia, cerebellar, extrapyramidal, or sensory signs. [cmm.ucsd.edu]

  Congenital fibrosis of extraocular muscles Congenital heart defect-round face-developmental delay syndrome Congenital hereditary facial paralysis-variable hearing loss syndrome Congenital hydrocephalus Congenital ichthyosis-intellectual disability-spastic quadriplegia [se-atlas.de]

• Babinski Sign

  Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. [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]

[…] of doctors is often needed to figure out the treatment options for each person. [rarediseases.info.nih.gov]

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]

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]

For people with HSP who experience bladder control issues, treatment with oxybutynin might help to relieve bladder spasticity. [disabled-world.com]

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]

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]

[…] 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]

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]

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]

Supportive care includes physical therapy, which helps to improve muscle strength, range of motion, prevent contractures of joints, and bedsores. [encyclopedia.com]

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]