Clinical description Some relatives presented with tremor, cataracts, sensory deficits, short stature, hypogonadism, elevated cerebrospinal fluid protein, and/or absent or prolonged somatosensory evoked potentials.[rarediseases.info.nih.gov]
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]
Written for practicing clinicians, this volume is an excellent reference for physicians, audiologists, and other professionals working with individuals with hearing loss and their families, and can also serve as a text for clinical training programs and[books.google.com]
In-Depth Information The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers.[rarediseases.info.nih.gov]
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]
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]
[…] spastic paraplegia include: shortening and hardening of the calf muscles – having regular physiotherapy may help prevent this cold feet – this is fairly common and occurs as a result of the deterioration of the nerves in the spine extreme tiredness (fatigue[nhs.uk]
"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]
In addition, the cardiovascular conditioning that results from physical therapy can reduce fatigue and improve endurance.[medschool.lsuhsc.edu]
Clinical features include shortstature, low hairline, low-set ears, and webbing of the neck. Gonadal dysfunction resulting in amenorrhoea and sterility is common.[diapedia.org]
stature and fibular hypoplasia Gay Feinmesser Cohen syndrome Lipoic acid synthetase deficiency Saito Kuba Tsuruta syndrome PARC syndrome Bone dysplasia lethal Holmgren type Glaucoma, Ectopia, Microspherophakia, Stiff joints and Shortstature syndrome[checkrare.com]
These include criteria for the diagnosis of multiple sclerosis, dementia of Lewy-body type, frontal lobe dementias, chronicfatiguesyndrome, and inflammatory neuropathies.[books.google.com]
impairment Impaired vision Loss of eyesight Poor vision [ more ] 0000505 5%-29% of people have these symptoms Ataxia 0001251 Nystagmus Involuntary, rapid, rhythmic eye movements 0000639 Percent of people who have these symptoms is not available through[rarediseases.info.nih.gov]
[…] body height Small stature [ more ] 0004322 Visual impairment Impaired vision Loss of eyesight Poor vision [ more ] 0000505 5%-29% of people have these symptoms Ataxia 0001251 Nystagmus Involuntary, rapid, rhythmic eye movements 0000639 Percent of people[rarediseases.info.nih.gov]
impairment Deafness Hearing defect [ more ] 0000365 Juvenile onset Signs and symptoms begin before 15 years of age 0003621 Tremor Tremors 0001337 X-linked inheritance 0001417 Showing of 16 Last updated: 5/1/2019 If you need medical advice, you can look[rarediseases.info.nih.gov]
60 33 (show all 15) # Description HPO Frequency Orphanet Frequency HPO Source Accession 1 gait disturbance 60 33 hallmark (90%) Very frequent (99-80%) HP:0001288 2 hyperreflexia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001347 3 sensorineural hearing[malacards.org]
However, there are many syndromes that have both vision and hearingimpairment as part of the conditions that define the syndrome.[tsbvi.edu]
impairment or abnormalities with the eyes) rate of progression/degeneration.[hspersunite.org.au]
impairment Deafness Hearing defect [ more ] 0000365 Juvenile onset Signs and symptoms begin before 15 years of age 0003621 Tremor Tremors 0001337 X-linked inheritance 0001417 Showing of 16 Last updated: 5/1/2019 If you need medical advice, you can look[rarediseases.info.nih.gov]
60 33 (show all 15) # Description HPO Frequency Orphanet Frequency HPO Source Accession 1 gait disturbance 60 33 hallmark (90%) Very frequent (99-80%) HP:0001288 2 hyperreflexia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001347 3 sensorineural hearing[malacards.org]
However, there are many syndromes that have both vision and hearingimpairment as part of the conditions that define the syndrome.[tsbvi.edu]
impairment or abnormalities with the eyes) rate of progression/degeneration.[hspersunite.org.au]
Entries on cerebellar diseases, peripheralneuropathies, various dementias, diagnostic tests (both clinical and laboratory), forms of cerebral edema, dissociative signs and syndromes - all these and many more have been added, expanded, updated or clarified[books.google.com]
For example, a person with pure HSP may have peripheralneuropathy caused by diabetes, or he or she may have unrelated epilepsy. Additional symptoms The classic symptom of HSP is progressive difficulty in walking, but the severity varies.[emedicine.medscape.com]
As many as 20% of patients with TSP may also experience: deafness double vision the tendency to incorrectly estimate the amount of motion necessary to accomplish a specific task (dysmetria) exaggerated reflexes facial paralysis tremor.[medical-dictionary.thefreedictionary.com]
Upper limb tremor. Absent or reduced ankle reflex.[patient.info]
Rarely, spastic paraplegia type 15 is associated with a group of movement abnormalities called parkinsonism, which includes tremors, rigidity, and unusually slow movement (bradykinesia).[icdlist.com]
Entries on cerebellardiseases, peripheral neuropathies, various dementias, diagnostic tests (both clinical and laboratory), forms of cerebral edema, dissociative signs and syndromes - all these and many more have been added, expanded, updated or clarified[books.google.com]
Spinocerebellar ataxia It is a autosomal dominant cerebellardisease characterized by loss of cerebellar cells.It can also inherited in autosomal recessive as well as X-linked manner.Ataxia, or irregular movement due to loss of neural control are commonly[explainmedicine.com]
Erythropoietic protoporphyria Fuhrmann syndrome Mastocytosis cutaneous with short stature conductive hearing loss and microtia Mosaic trisomy 9 Heart-hand syndrome, Slovenian type X-linked creatine deficiency Lethal chondrodysplasia Seller type Corneal hypesthesia[checkrare.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]
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]
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]
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]