[…] 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]

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]

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 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]

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]

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]

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]

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]

[…] 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]

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]

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 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]

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]

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]

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]

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]