Symptoma

Spastic Paraparesis-Deafness Syndrome

Wells-Jankovic Syndrome

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]

  • Pain

    […] sensation Decreased pain sensation 0007328 Sensorineural hearing impairment 0000407 Spastic paraparesis 0002313 30%-79% of people have these symptoms Cataract Clouding of the lens of the eye Cloudy lens [ more ] 0000518 Hypogonadism Decreased activity [rarediseases.info.nih.gov]

    Painful joints, joint contracture and hip dislocation can occur in severe form of disease.[2],[3]. [explainmedicine.com]

    The weakness can lead to twitching, cramps, aches and pains, and joint and movement problems. Sometimes it also affects heart function and your ability to breathe. [icdlist.com]

    Synonym: HTLV-1–associated myelopathy Symptoms Symptoms include back pain with gradual loss of motor function in one or both legs, ataxia, and urinary incontinence. [medical-dictionary.thefreedictionary.com]

    A good portion of people report painful spasms and other pain. ( Editor's Note : One of our community members, who is a primary care physician with HSP, has submitted an article about pain management. Please see Articles - Pain .) [host.web-print-design.com]

  • Physician

    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]

  • Difficulty Walking

    Symptoms People with HSP usually have difficulty walking and have an increased risk of falling. This may be due to exaggerated reflexes, along with spasms, cramps, and stiffness. [medicalnewstoday.com]

    An early feature is difficulty walking due to spasticity and weakness, which typically affect both legs equally. [icdlist.com]

    The primary symptom of HSP is difficulty walking due to weakness and tightness (spasticity) in the legs. Both legs are affected, usually to a relatively similar degree. The term “paraplegia” means severe weakness in both legs including paralysis. [rarediseases.org]

    The main symptom of HSP is progressive difficulty walking due to increasingly weak spastic leg muscles. [biomediclabs.com]

    The main symptom of an HSP is difficulty walking due to weak and stiff (“spastic”) leg muscles. This weakness and stiffness begins suddenly and slowly gets worse with age, often becoming severe and debilitating. [medschool.lsuhsc.edu]

  • Fatigue

    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]

  • Short Stature

    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]

    (90%) Very frequent (99-80%) HP:0007328 6 spastic paraparesis 60 33 hallmark (90%) Very frequent (99-80%) HP:0002313 7 cataract 60 33 frequent (33%) Frequent (79-30%) HP:0000518 8 visual impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000505 9 short [malacards.org]

    Clinical features include short stature, 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 Short stature syndrome [checkrare.com]

  • Visual Impairment

    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]

    impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000505 9 short stature 60 33 frequent (33%) Frequent (79-30%) HP:0004322 10 hypogonadism 60 33 frequent (33%) Frequent (79-30%) HP:0000135 11 nystagmus 60 33 occasional (7.5%) Occasional (29-5%) HP [malacards.org]

    Additional features include cerebellar ataxia, peripheral neuropathy, amyotrophy, extrapyramidal symptoms, cognitive impairment, deafness and visual impairment [1]. [journals.plos.org]

  • Skeletal Dysplasia

    Dysplasias: Achondroplasia Skeletal Dysplasias: Hypochondroplasia Skeletal Dysplasias: Thanatophoric Dysplasia Spinal and Bulbar Muscular Atrophy: AR Trinucleotide Repeat Analysis Spinal Muscular Atrophy: SMN1 and SMN2 Deletion/Duplication Analysis Tay-Sachs [sickkids.ca]

    dysplasia Sebaceous gland hyperplasia, familial presenile Pentosuria Xanthinuria type 2 Renal hypomagnesemia-6 Deafness, autosomal dominant nonsyndromic sensorineural 3 Hypertrichosis lanuginosa congenita Gestational trophoblastic tumor Multiple endocrine [checkrare.com]

  • 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]

  • Decrease in Height

    […] 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]

  • Torticollis

    Limb-girdle muscular dystrophy, type 2B Seaver Cassidy syndrome Naegeli syndrome Temtamy syndrome Battaglia-Neri syndrome Accessory deep peroneal nerve Glutamine deficiency, congenital Renier Gabreels Jasper syndrome Malignant hyperthermia arthrogryposis torticollis [checkrare.com]

  • Hearing Impairment

    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 hearing impairment as part of the conditions that define the syndrome. [tsbvi.edu]

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

  • Spastic Paraplegia

    spastic paraplegia type 53 Autosomal recessive spastic paraplegia type 54 Autosomal recessive spastic paraplegia type 55 Autosomal recessive spastic paraplegia type 57 Autosomal recessive spastic paraplegia type 61 Autosomal recessive spastic paraplegia [icdlist.com]

    Company Science NGS Panel – Genetic Testing for Spastic Paraplegia Hereditary Spastic Paraplegia (HSP), Spastic paraplegia, SPG, Familial Spastic Paraplegia, Hereditary Spastic Paraparesis, Strumpell-Lorrain Syndrome Hereditary Spastic Paraplegia (HSP [centogene.com]

    Diagnosing hereditary spastic paraplegia Hereditary spastic paraplegia is diagnosed following a thorough clinical examination and the identification of typical symptoms. [nhs.uk]

    AD/AR 6 7 SPAST Spastic paraplegia AD 193 723 SPG11 Spastic paraplegia, Amyotrophic lateral sclerosis, Charcot-Marie-Tooth disease AR 162 274 SPG20 Spastic paraplegia (Troyer syndrome) AR 9 7 SPG7 Spastic paraplegia AR 69 111 SPR Dystonia, Dopa-responsive [blueprintgenetics.com]

    Paraplegia", abstract "Hereditary spastic paraplegia (HSP) (also known as familial spastic paraparesis and Strumpell-Lorrain syndrome) refers to clinically and genetically diverse disorders that share the primary feature of progressive, generally severe [experts.umich.edu]

  • Peripheral Neuropathy

    Entries on cerebellar diseases, 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]

    For example, a person with pure HSP may have peripheral neuropathy 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]

  • Nystagmus

    Hypogonadism Decreased activity of gonads 0000135 Short stature Decreased 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 [rarediseases.info.nih.gov]

    Marked loss or slowing of saccadic eye movements, dementia, as well as peripheral neuropathy recognized in SCA 2.Coarse gaze-evoked nystagmus, poor suppression of eye movement by vision, downbeat nystagmus on lateral gaze, can seen in SCA 6. [explainmedicine.com]

    Other eye signs include drooping of the eyelids (ptosis), difficulties in upward gaze, and nystagmus (involuntary movements of the eyes). Genetics: This condition usually occurs when both members of a gene pair are changed (mutated). [disorders.eyes.arizona.edu]

    […] frequent (33%) Frequent (79-30%) HP:0000518 8 visual impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000505 9 short stature 60 33 frequent (33%) Frequent (79-30%) HP:0004322 10 hypogonadism 60 33 frequent (33%) Frequent (79-30%) HP:0000135 11 nystagmus [malacards.org]

    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]

  • Hyperreflexia

    Showing of 16 80%-99% of people have these symptoms Gait disturbance Abnormal gait Abnormal walk Impaired gait [ more ] 0001288 Hemiplegia/hemiparesis Paralysis or weakness of one side of body 0004374 Hyperreflexia Increased reflexes 0001347 Impaired [rarediseases.info.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]

    The SCA7 is found to be associated with retinopathy or blindness where as the SCA 8 may cause hyperreflexia, decreased sense of vibration, as well as ataxic dysarthria.[6]. [explainmedicine.com]

    GeneCards Suite gene sharing: Human phenotypes related to Spastic Paraparesis and Deafness: 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 [malacards.org]

    Examination at the age of 22 years after a traffic accident revealed failure of abduction of the left eye, hyperreflexia in all four extremities and Babinski sign. [journals.plos.org]

  • Tremor

    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]

    60 33 frequent (33%) Frequent (79-30%) HP:0004322 10 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 [malacards.org]

    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]

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]