This karyotype, present in between 1-2 per thousand male births, is variable in its presentation, and frequently passes unnoticed; the usual clinical presentation is with hypogonadism or infertility. [diapedia.org]

Bowel dysfunction may be present. There may be back pain with radiation to the legs. Erectile dysfunction has been reported as a presenting feature. Dermatitis or psoriasis may be present. [patient.info]

In severe form of Cervical Myelopathy causes muscle weakness in all 4 limbs with sensory disturbances.Pathological reflexes are also present. Hoffmann's sign and Babinski's sign also can be seen. [explainmedicine.com]

Methods:Herein we present a 28 years-old man with spastic paraparesis and sensorineural hearing loss due to neurobrucellosis. Results:The patient was treated with antibiotics combination for 6 months and underwent rehabilitation program. [content.iospress.com]

The risk of an individual inheriting the abnormal gene depends on the mode of transmission and whether the mutated gene is present on a sex chromosome or an autosome. [encyclopedia.com]

• Chronic Fatigue Syndrome

  These include criteria for the diagnosis of multiple sclerosis, dementia of Lewy-body type, frontal lobe dementias, chronic fatigue syndrome, and inflammatory neuropathies. [books.google.com]

• Pallister-Hall Syndrome

  […] tibial hypoplasia Thiamine responsive megaloblastic anemia syndrome Childhood-onset cerebral X-linked adrenoleukodystrophy Farber's disease Giant platelet syndrome Pallister-Hall syndrome Proteus syndrome Microvillus inclusion disease Choroideremia Familial [checkrare.com]

• Overeating

  Sudden onset or rapid worsening over weeks or months is not typical of HSP and suggests an alternate disorder or co-existing condition. [rarediseases.org]

  A wide variety of symptoms are observed across cases and over time given the degenerative nature of the disease. [hspersunite.org.au]

  Over fifty spastic paraplegia gene (SPG) genetic loci have been identified to date. The mode of inheritance for HSP can be autosomal dominant, recessive, or X-linked. [now.aapmr.org]

  Save over 20% compared to the individual article price. [karger.com]

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

• Hearing Impairment

  […] eye movements 0000639 Percent of people who have these symptoms is not available through HPO Hearing impairment Deafness Hearing defect [ more ] 0000365 Juvenile onset Signs and symptoms begin before 15 years of age 0003621 Tremor Tremors 0001337 X-linked [rarediseases.info.nih.gov]

  […] hypogonadism 60 33 frequent (33%) Frequent (79-30%) HP:0000135 11 nystagmus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000639 12 ataxia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001251 13 tremor 33 HP:0001337 14 hearing impairment 33 HP:0000365 [malacards.org]

  However, there are many syndromes that have both vision and hearing impairment as part of the conditions that define the syndrome. [tsbvi.edu]

  speech impairment, hearing impairment or abnormalities with the eyes) rate of progression/degeneration. [hspersunite.org.au]

• Muscle Twitch

  Apraxia (Medical Encyclopedia) Hand or foot spasms (Medical Encyclopedia) Muscle atrophy (Medical Encyclopedia) Muscle function loss (Medical Encyclopedia) Muscle twitching (Medical Encyclopedia) Myotonia congenita (Medical Encyclopedia) Spasticity (Medical [icdlist.com]

• Excitement

  The recent discovery of the spastin and paraplegin genes opens a new era of exciting opportunities in which we can begin to investigate the physiology of the motor system and the degenerative process it undergoes, hopefully offering opportunities for [jnnp.bmj.com]

It is divided into the following sections: Overview Differential Diagnoses & Workup Treatment & Medication Follow-up Multimedia [hspersunite.org.au]

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]

HSP Treatment Although treatment programs vary, treatment includes: physical therapy, occupational therapy, speech therapy, drug therapy, assistive devices, orthotics, supportive counseling and dietary recommendations. [biomediclabs.com]

Consult a doctor or other health care professional for diagnosis and treatment of medical conditions. For details see our conditions . [patient.info]

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]

However, HSPers report benefits from treatments as diverse as ankle / foot surgery where tendons are relocated, to fitness and specialised treatment from neurophysiotherapists for muscle strength and range of motion. [hspersunite.org.au]

Gene therapy may not work against all types of genetic disease, and it remains to be seen if any of the HSPs are candidates for this type of treatment. [medschool.lsuhsc.edu]

Diagnosis and Prognosis: The diagnosis is usually made by a neurologist. The MRI may show some loss of tissue in certain areas of the brain but this is nondiagnostic. [disorders.eyes.arizona.edu]

Prognosis As noted, TSP cannot be cured. Prevention The United States Food and Drug Administration (FDA) has approved screening procedures developed to detect HTLV-1 in donated blood and blood products designated for transfusion. [medical-dictionary.thefreedictionary.com]

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]

Prognosis The disease is a slowly progressive disorder. Although not life threatening in itself, death may occur as a complication of infection or immobility. For example: Septicaemia from urinary infections or infected pressure sores. [patient.info]

Progressive multiple sclerosis MS is an inflammatory, demyelinating, neurodegenerative disorder of the central nervous system of unknown etiology. Peak age of onset in Primary progressive MS is around 40 years. [explainmedicine.com]

Etiology The genetics of HSP are complex and heterogeneous. Over fifty spastic paraplegia gene (SPG) genetic loci have been identified to date. The mode of inheritance for HSP can be autosomal dominant, recessive, or X-linked. [now.aapmr.org]

MtDNA defects of either primary or secondary etiology are known to segregate predominantly in clinically affected tissues. [journals.plos.org]

Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular [books.google.com]

Epidemiology It has been described in affecting at least six male members spanning three generations of a large family. [rarediseases.info.nih.gov]

In a study in Martinique looking at the epidemiology of adult T-cell leukaemia, 59% of those patients who had TSP were found to have antibodies to HTLV-1, as opposed to 13% of controls. [ 2 ] Since then, several other studies have confirmed these findings [patient.info]

The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies. Neuroepidemiology. 2014; 42(3):174-83. [invitae.com]

Epidemiology including risk factors and primary prevention The prevalence of HSP is estimated to be at 3 to 10 cases per 100,000. The onset of the disease process begins anywhere from early childhood to 70 years of age. [now.aapmr.org]

A role for white matter abnormalities in the pathophysiology of bipolar disorder. Neurosci Biobehav Rev 2010;34:533-54. [ PUBMED ] [ FULLTEXT ] 14. Mazza M, Di Nicola M, Marca GD, Janiri L, Bria P, Mazza S. [ruralneuropractice.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]

Treating hereditary spastic paraplegia It isn't possible to prevent, slow or reverse hereditary spastic paraplegia, but some of the symptoms can be managed so that day-to-day activities become easier. [nhs.uk]

Prevention The United States Food and Drug Administration (FDA) has approved screening procedures developed to detect HTLV-1 in donated blood and blood products designated for transfusion. [medical-dictionary.thefreedictionary.com]

A regularly followed exercise regimen should incorporate daily or twice daily stretching and daily exercises to promote improved endurance and activity tolerance and to prevent deconditioning. [now.aapmr.org]

This product is not intended to diagnose, treat, cure, or prevent any disease. Results may vary. Copyright © 2004 Biomedic Labs. All rights reserved Terms & Conditions [biomediclabs.com]

Currently, no treatment is available to prevent, stop or reverse the symptoms of spastic paraplegia. * These information were reviewed by Dr. Guy A Rouleau, M. D., Ph. D., FRCPC, O.Q. [enmarcheversuntraitement.org]