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]
Entire Body System
- 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 difficulty [checkorphan.org]
Over time, muscle weakness and stiffness travels up (ascends) the body from the legs to the head. [diseaseinfosearch.org]
As the condition progresses, affected children develop abnormal tightness and stiffness in the leg muscles and weakness in the legs and arms. Over time, muscle weakness and stiffness travels up (ascends) the body from the legs to the head and neck. [ghr.nlm.nih.gov]
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]
- Movement Disorder
(99.2% **) WES movement disorders (99.2% **) ** % of the coding region of this gene has a coverage of >20x. [order.radboudumc.nl]
[…] disability Rare genetic medullar disease Rare genetic movement disorder Rare genetic myoclonus Rare genetic neurological disorder Rare genetic parkinsonian disorder Rare genetic syndromic intellectual disability Rare genetic tremor disorder Rare hereditary [se-atlas.de]
Worldwide Education & Awareness for Movement Disorders (WE MOVE). 204 West 84th Street, New York, NY 10024. (April 4, 2005.). OTHER Association Strumpell-Lorrain. 7 D rue des Granges, Besancon, Intl 25000, France. (038) 150 2391. (April 4, 2005.). [encyclopedia.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]
Methods Patients 128 patients (58 women, 70 men) from 109 families were recruited by specialised HSP outpatient clinics in Bochum, Kiel, and Tübingen, Germany, in the context of the German Network of Hereditary Movement Disorders (GeNeMove). [ojrd.biomedcentral.com]
- Pallor
The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. [genecards.org]
Jaw & Teeth
- Prognathism
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome Intellectual disability-myopathy-short stature-endocrine defect syndrome Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome Intellectual disability-obesity-prognathism-eye [se-atlas.de]
Eyes
- Visual Impairment
Symptoms may include visual impairments including... [goldbamboo.com]
impairment-urinary anomalies syndrome Hypotonia-speech impairment-severe cognitive delay syndrome Hypotrichosis-intellectual disability, Lopes type Hypoxanthine guanine phosphoribosyltransferase partial deficiency Hypoxanthine-guanine phosphoribosyltransferase [se-atlas.de]
Neurologic
- Ataxia
[…] type 1 Spinocerebellar ataxia type 10 Spinocerebellar ataxia type 11 Spinocerebellar ataxia type 12 Spinocerebellar ataxia type 13 Spinocerebellar ataxia type 14 Spinocerebellar ataxia type 15/16 Spinocerebellar ataxia type 17 Spinocerebellar ataxia [se-atlas.de]
[…] lyase deficiency Adrenoleukodystrophy Alagille syndrome Albinism Alexander disease alkaptonuria ALS see amyotrophic lateral sclerosis Alström syndrome Alzheimer's disease Amelogenesis imperfecta androgen insensitivity syndrome Anemia Angelman syndrome ataxia [ipfs.io]
(SCAs), Friedreich ataxia, spastic ataxia of Charlevoix-Saguenay, etc. [centogene.com]
Degenerative nerve diseases include Alzheimer's disease Amyotrophic lateral sclerosis Friedreich's ataxia Huntington's disease Lewy body disease Parkinson's disease Spinal muscular atrophy Degenerative nerve diseases can be serious or life-threatening [medlineplus.gov]
An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8). Nature Genetics 21:379-384,1999. Matsuura,T. et al.:Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10. [bml.co.jp]
- Peripheral Neuropathy
Symptoms are progressive and may be associated with other neurological conditions, such as epilepsy, mental retardation, peripheral neuropathy, ocular degeneration such as retinopathy, and/or the destruction of optic nerve. [encyclopedia.com]
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]
In specific, isolated families, the following symptoms have included: Mental retardation Dementia Epilepsy Peripheral neuropathy Retinopathy Optic neuropathy Deafness Ataxia Dysarthria Nystagmus Families who experience complicated HSP can also have symptoms [disabled-world.com]
Electrophysiologically peripheral neuropathy was assumed, if NCS were abnormal in two or more nerves. [ojrd.biomedcentral.com]
Periodic paralysis with transient compartment-like syndrome Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome Periventricular [se-atlas.de]
- Nystagmus
Less common features include difficulty swallowing (dysphagia), high-arched feet (pes cavus), an abnormal curvature of the spine (scoliosis), and involuntary movements of the eyes (nystagmus). [icdlist.com]
In specific, isolated families, the following symptoms have included: Mental retardation Dementia Epilepsy Peripheral neuropathy Retinopathy Optic neuropathy Deafness Ataxia Dysarthria Nystagmus Families who experience complicated HSP can also have symptoms [disabled-world.com]
Other clinical complications are ataxia (incoordination), dysarthria (difficulty speaking), deafness, nystagmus (involuntary eye movements), decreased functioning of the adrenal glands, and ichthyosis (abnormal dryness, scaling, and thickening of the [encyclopedia.com]
He was able to achieve a full range ofeye movements with no nystagmus, while the reducedmobility of his facial muscles resulted in a forced smile.8 Hehad decreased tongue mobility in all directions, but no fas-ciculations or amyotrophy. [documents.tips]
- 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]
- Cerebellar Ataxia
ataxia Autosomal dominant cerebellar ataxia type I Autosomal dominant cerebellar ataxia type II Autosomal dominant cerebellar ataxia type III Autosomal dominant cerebellar ataxia type IV Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome [se-atlas.de]
Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the α1A-voltage-dependent calcium channel. Nature Genetics 15:62-69,1997. David,G. et al. [bml.co.jp]
Pedersen L, Trojaborg W: Visual, auditory and somatosensory pathway involvement in hereditary cerebellar ataxia, Friedreich’s ataxia and familial spastic paraplegia. Electroencephalogr Clin Neurophysiol 1981, 52 :283–297. [link.springer.com]
This classification is subjective and patients with complex HSPs are sometimes diagnosed as having cerebellar ataxia with spasticity, mental retardation (with spasticity), or leukodystrophy. [9] Some of the genes listed below have been described in other [en.wikipedia.org]
PubMed View Article Google Scholar Fujigasaki H, Martin JJ, De Deyn PP, Camuzat A, Deffond D, Stevanin G, Dermaut B, Van Broeckhoven C, Durr A, Brice A: CAG repeat expansion in the TATA box-binding protein gene causes autosomal dominant cerebellar ataxia [ojrd.biomedcentral.com]
Treatment
[…] 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]
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]
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]
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]