When present, autonomic disturbances manifest as hypohydrosis. [avensonline.org]

HSP is classified according to the clinical phenotype as either pure or complex, the latter presenting with neurological and systemic impairments in addition to spastic paraparesis. [journals.lww.com]

Small hands and sometimes joint laxity are commonly present. Cervical spine abnormalities including clefting, improper fusion, and segmentation anomalies are common. Brain MRI may be normal but a small corpus callosum was present in some patients. [disorders.eyes.arizona.edu]

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]

The sister carrying the R294H variant had an ataxic gait and hand tremor at 3 years, which was not present in her sister. [epilepsygenetics.net]

• Pathologist

  PMID: 24603320 Assay Assay and technical information Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion [invitae.com]

• Hyperreflexia

  33 HP:0002395 Symptoms via clinical synopsis from OMIM: 58 Neurologic Central Nervous System: lower limb spasticity ankle clonus spastic gait lower limb hyperreflexia extensor plantar responses more Neurologic Peripheral Nervous System: decreased vibration [malacards.org]

  Symptoms include hyperreflexia, extensor plantar responses, degeneration of the lateral corticospinal tracts, decreased vibratory sense in the lower limbs, pes cavus and atrophy of the shins. [cags.org.ae]

  People with this condition can also experience exaggerated reflexes (hyperreflexia), a decreased ability to feel vibrations, muscle wasting (amyotrophy), and reduced bladder control. [ghr.nlm.nih.gov]

  Clinical Characteristics Clinical Description Spastic paraplegia 8 (SPG8) is characterized by progressive lower-limb spasticity (hyperreflexia and extensor plantar reflexes). [ncbi.nlm.nih.gov]

• Spastic Gait

  33 HP:0000020 26 lower limb hyperreflexia 33 HP:0002395 Symptoms via clinical synopsis from OMIM: 58 Neurologic Central Nervous System: lower limb spasticity ankle clonus spastic gait lower limb hyperreflexia extensor plantar responses more Neurologic [malacards.org]

  Walking pattern described as “spastic gait” occurs in which the following elements are present, each to variable degree in different individuals: a) heel strike is shifted forward (landing on the mid-foot or even further forward on the balls of the feet [rarediseases.org]

  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]

  Hereditary spastic paraplegia ( HSP ) is a group of inherited diseases whose main feature is a progressive gait disorder. [en.wikipedia.org]

  Winner B, Uyanik G, Gross C et al. (2004) Clinical progression and genetic analysis in hereditary spastic paraplegia with thin corpus callosum in spastic gait gene 11 (SPG11). Archives of Neurology 61: 117–121. [els.net]

• Lower Extremity Spasticity

  Clinical Features  Symptoms depend on the type of HSP inherited  Main feature >>> progressive spasticity in the lower limbs, due to pyramidal tract dysfunction  In the lower extremities, spasticity is increased at the hamstrings, quadriceps and ankles [slideshare.net]

  Spastic paraplegias are a diverse group of disorders in which the autosomal dominant forms are characterized by progressive, lower extremity spasticity caused by axonal degeneration in the terminal portions of the longest descending and ascending corticospinal [genecards.org]

  […] to slowly progressive lower extremity spasticity and weakness. [research.unipd.it]

  All forms of HSP, complicated and uncomplicated, share the primary symptom of lower-extremity spastic weakness. [invitae.com]

  “Complicated” HSP is the diagnosis given to an individual who suffers with lower extremity spasticity along with such neurological problems as peripheral neuropathy, seizures, ataxia, optic neuropathy, retinopathy, dementia, mental retardation, and deafness [medschool.lsuhsc.edu]

• Babinski Sign

  HPO Frequency Orphanet Frequency HPO Source Accession 1 degeneration of the lateral corticospinal tracts 60 33 hallmark (90%) Very frequent (99-80%) HP:0002314 2 progressive spastic paraplegia 60 33 hallmark (90%) Very frequent (99-80%) HP:0007020 3 babinski [malacards.org]

  Other common symptoms of HSP are urinary urgency and frequency, hyperactive reflexes, difficulty with balance, clonus, Babinski’s sign, diminished vibration sense in the feet, muscle spasms, and congenital foot problems such as pes cavus (high arched [sp-foundationorg.presencehost.net]

  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]

  Pedigree number Gender Age at examination (years) Onset of symptoms  (years) SPRS SARA INAS Hyperreflexia UL/LL Babinski sign Clonus Decreased vibration sense Bladder disturbances Degree of disability MMSE Other signs PED1/II-1 proband M 56 40 24/52 [omicsonline.org]

Given these findings, along with prior negative workup, a neurology consult was obtained, and the patient was diagnosed with HSAN. The blisters were unroofed, and local wound care resulted in ultimate improvement of these lesions ( Figure 2 ). [avensonline.org]

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]

Food and Drug Administration has chosen Wave Life Sciences’ planned phase 2/3 study of suvodirsen, its lead experimental therapy for the treatment of Duchenne muscular dystrophy, to break new ground. [globalgenes.org]

Treatment Treatment Options: No treatment has been reported. [disorders.eyes.arizona.edu]

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]

Patients show clinical improvement with this treatment. Treatment options for surgery or destructive therapy is for lesions that don't respond to the above treatment. [en.wikipedia.org]

Adams, Ali Fatemi Oxford University Press, 2016 - 1398 Seiten The second edition of Neurobiology of Disease includes nearly 200 articles surveying all major disorders of the nervous system in both adults and children, focusing on relevant diagnosis and treatments [books.google.de]

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]

The disease has a fairly good prognosis, but the prominent weakness and spasticity may cause disability later in life. [6] In CMT-5 patients, NCV studies, usually, show a homogeneous reduction in NCV in the common peroneal nerve. [7], [8] Our patient [sudanmedicalmonitor.org]

As there is a continual increase in WES-generated data on genetic variants, the pool of modifier genes likewise grows and diagnostic inferences will become more accurate, thus providing the grounds for a more precise prognosis. [wjgnet.com]

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]

Frontonasal dysplasia (median cleft face syndrome): Comments on etiology and pathogenesis. Birth Defects Original Article Series, 7, 117–119. PubMed Google Scholar DeMeyer, W. (1967). [link.springer.com]

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]

Arthrogryposis (multiple congenital contractures): Diagnostic approach to etiology, classification, genetics, and general principles. European Journal of Medical Genetics, 57(8), 464-472. doi:10.1016/j.ejmg.2014.03.008 Request Information [igenomix.es]

Tijana Copf, Impairments in dendrite morphogenesis as etiology for neurodevelopmental disorders and implications for therapeutic treatments, Neuroscience & Biobehavioral Reviews, 10.1016/j.neubiorev.2016.04.008, 68, (946-978), (2016). [doi.org]

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

Consequently, they are often approached together in epidemiological studies. [karger.com]

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

"Genetic epidemiology of Darier's disease: a population study in the west of Scotland". Br. J. Dermatol. 146 (1): 107–9. doi : 10.1046/j.1365-2133.2002.04559.x. PMID 11841374. ^ a b Burge SM, Wilkinson JD (July 1992). [en.wikipedia.org]

Ishiura, Yuji Takahashi, Toshihiro Hayashi, Kayoko Saito, Hirokazu Furuya, Mitsunori Watanabe, Miho Murata, Mikiya Suzuki, Akira Sugiura, Setsu Sawai, Kazumoto Shibuya, Naohisa Ueda, Yaeko Ichikawa, Ichiro Kanazawa, Jun Goto and Shoji Tsuji, Molecular epidemiology [doi.org]

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]

Pathophysiological insights into ALS with C9ORF72 expansions. Journal of Neurology, Neurosurgery and Psychiatry, 84(8), 931-935. [sydney.edu.au]

Treatment 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 26. Gen. Spas ticity Oral Agents Foc. [slideshare.net]

Affected patients must undergo regular neurological examinations to evaluate disease progression as well as urological analysis to prevent secondary complications such as urinary tract infections. [cags.org.ae]

For patients with walking (gait) problems, canes, walkers, and wheelchairs will facilitate mobility and help to prevent falling and subsequent injury. A number of drugs are available to reduce some of the symptoms of HSP. [medschool.lsuhsc.edu]

Supportive care includes physical therapy, which helps to improve muscle strength, range of motion, prevent contractures of joints, and bedsores. [encyclopedia.com]

Prevention of secondary complications: Bladder function should be routinely monitored to avoid urinary tract infections. [ncbi.nlm.nih.gov]