Presentation
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]
Acronym SPG35 Synonyms FAHN Fatty acid hydroxylase-associated neurodegeneration Leukodystrophy dysmyelinating and spastic paraparesis with or without dystonia Keywords Any medical or genetic information present in this entry is provided for research, [uniprot.org]
CASE PRESENTATION: We describe a Chinese family with ARHSP-TCC. Two daughters of this family presented with a spastic gait and cognitive impairment. Brain imaging of the index patient revealed a thin corpus callosum. [hspersunite.org.au]
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]
Muscle weakness when present is seen in iliopsoas, tibialis anterior and, to a lesser extent, the hamstrings. [jnnp.bmj.com]
Entire Body System
- Asymptomatic
The phenotype was one of pure HSP with a wide range of disease severity with some patients requiring a wheelchair whereas others remained asymptomatic at the age of 40 years. [jnnp.bmj.com]
Pulmonary AVMs (PAVMs) can be asymptomatic or manifest as dyspnea and hypoxemia secondary to shunting. [aetna.com]
The parents (II-1 and 2), who were first cousins, were neurologically asymptomatic. Arrow indicates the proband, and dots indicate the persons who permit analysis of their DNAs. [intechopen.com]
This issue is especially relevant in studies based on genetic centre records, where clinical inclusion criteria are clearly needed to differentiate clinically affected patients from asymptomatic or presymptomatic carriers. [karger.com]
英語 :Saito, T and Kawamura, Y.a and Tanabe, Y.a and Asanome, A.a and Takahashi, K.a and Sawada, J.a and Katayama, T.a and Sato, N.a and Aizawa, H.b and Hasebe, N.a, Cerebral microbleeds and asymptomatic cerebral infarctions in patients with atrial fibrillation [hyouka04.asahikawa-med.ac.jp]
- Rigor
Incorporation of rigorous quality control steps throughout the workflow of the pipeline ensures the consistency, validity and accuracy of results. Our pipeline is streamlined to maximize sensitivity without sacrificing specificity. [blueprintgenetics.com]
Rigorous clinical evaluation should precede diagnostic molecular testing. [aetna.com]
Gastrointestinal
- Muscle Rigidity
rigidity, post-operative myoglobinuria, heat or exercise induce rhabdomyolysis) who are unable or unwilling to undergo contracture testing. [aetna.com]
Musculoskeletal
- Muscle Spasticity
Spasticity primarily affects muscles of leg extension (quadriceps), knee flexion (hamstrings), hip adduction (bringing the knees together, thigh adductor muscles), and muscles that extend the feet (gastrocnemius-soleus [Achilles tendon]). [rarediseases.org]
A recessive form of spastic paraplegia with distal muscle wasting. Arch Neurol 1967, 16 :473–485. PubMed Google Scholar 55. [link.springer.com]
Eyes
- Visual Impairment
There is no clear documentation of visual impairment in the few reported cases of SPG56, although this form is complex on clinical ground and visual deficit are extremely frequent in complicated HSP. [readbyqxmd.com]
Some of these disorders include involvement of other systems, such as visual impairment or ataxia, but the pure form is limited to spastic paraplegia. [dokumen.tips]
Additional features include cerebellar ataxia, peripheral neuropathy, amyotrophy, extrapyramidal symptoms, cognitive impairment, deafness and visual impairment [1]. [journals.plos.org]
Neurologic
- Hyperreflexia
[…] spasticity is increased at the hamstrings, quadriceps and ankles Weakness is most notable at the iliopsoas, tibialis anterior, hamstring muscles difficulty in walking, decreased vibratory sense at the ankles, and paresthesia In lower extremities hyperreflexia [slideshare.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]
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]
On neurological examination, he showed hyperreflexia, spasticity, and weakness in the lower extremities and bilateral Babinski reflexes. Urinary dysfunctions and impaired vibration sense in the lower limbs were observed. [hspersunite.org.au]
Upper limb involvement is relatively uncommon and usually consists of mild hyperreflexia, which may be present early in the disease. A trace of terminal dysmetria may also be found in the upper limbs, but more florid cerebellar signs are not seen. [jnnp.bmj.com]
- Abnormal Gait
Furthermore, among the core symptoms of HSP are also included abnormal gait and difficulty in walking, decreased vibratory sense at the ankles, and paresthesia. [13] Initial symptoms are typically difficulty with balance, stubbing the toe or stumbling [ipfs.io]
Many mutated genes are linked to abnormal lipid metabolism. [en.wikipedia.org]
Independent walking occurred at 18 months, but his abnormal gait was characterized by hip flexion and adduction, knee extension and plantar flexion at the ankle. Therapeutic intervention was intermittent and inconsistent during early childhood. [dokumen.tips]
Furthermore, among the core symptoms of HSP are also included abnormal gait and difficulty in walking, decreased vibratory sense at the ankles, and paresthesia. [32] Initial symptoms are typically difficulty with balance, stubbing the toe or stumbling [psychology.wikia.com]
- 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]
[…] 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]
Non-syndromic spastic paraplegias are characterized by slowly progressive spasticity and weakness of the lower extremity, often associated with hypertonic urinary disturbances, mild reduction of lower extremity vibration sense and, occasionally, of joint [blueprintgenetics.com]
The following individuals are candidates for spastic paraplegia-related gene testing: Individuals with a family history of hereditary spastic paraplegia and presentation of lower extremity spasticity and weakness and other common symptoms Individuals [centogene.com]
- Paresis
1-10 in 100,000 people worldwide have HSP Can affect people of all ages, but average age at onset is 24 4. 1 2 3 4 • Hereditary spastic paresis • Familial spastic paraplegia • Strumpell-Lorrain disease: first described 1883-1888 • French Settlement [slideshare.net]
Antiparetic and antispastic effects induced by tizanidine in patients with spastic paresis. Journal of the Neurological Sciences. 1982;53(2):187-204. ^ Bes A, Eyssette M, Pierrot-Deseilligny E, Rohmer F, Warter JM. [en.wikipedia.org]
Bjorkhem, Marked accumulation of 27-hydroxycholesterol in SPG5 patients with hereditary spastic paresis. J Lipid Res, 2010. 51(4): p. 819-23. Schlipf, N.A., C. Beetz, R. Schule, G. Stevanin, A.K. Erichsen, S. Forlani, C. Zaros, K. Karle, S. [hih-tuebingen.de]
日本語 :高橋 佳恵 浅野目 明日香 齋藤 司 澤田 潤 片山 隆行 長谷部 直幸 高橋 千晶 飯塚 一, segmental zoster paresisを呈した1例, 臨床神経学, 53 (7) (585), 2013 81. [hyouka04.asahikawa-med.ac.jp]
- Dysmetria
Cerebellar signs were present in 4 patients (family I) and consisted of a dysarthric cerebellar speech, dysmetria, and abnormal rapid alternating movements in the upper extremities. [ajnr.org]
Eye movements show horizontal bidirectional nystagmus, saccadic alterations of smooth ocular pursuit and saccadic dysmetria. 18 Supranuclear gaze palsy has been described in one case. 17 In the Québecois cases, by the age of 10 more than 90% showed both [acnr.co.uk]
A trace of terminal dysmetria may also be found in the upper limbs, but more florid cerebellar signs are not seen. [jnnp.bmj.com]
Moderate truncal ataxia was present with bilateral dysmetria and dysdiadochokinesia. It was not possible to assess cerebellar function in the legs due to weakness. [journals.plos.org]
Workup
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]
Treatment
The process of degeneration will continue in spite of this treatment modality. [ic.steadyhealth.com]
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]
It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]
Ali Fatemi Oxford University Press, 2016 - 1398 من الصفحات 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.com]
Prognosis
Fortunately, the prognosis is different and many patients with proper supportive care and physical therapy may remain active for a long period of time or reduce the extent of disability significantly. [ic.steadyhealth.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 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. [ipfs.io]
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]
Etiology
They are organised into groups, and further divided into clinical, etiological or histopathological sub-types. [orpha.net]
Risch N et al. (1999) A genomic screen of autism: evidence for a multilocus etiology. [^] 26. [moldiag.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]
New technologies have led to a rapid increase in the identification of disease-related genes with an enhanced appreciation of the key roles played by genetics in the etiology of these disorders. [readbyqxmd.com]
Candidates for diagnostic testing include infants, children, and adults with generalized hypotonia and proximal muscle weakness of unknown etiology. [aetna.com]
Epidemiology
Consequently, they are often approached together in epidemiological studies. [karger.com]
Relevant External Links for FA2H Genetic Association Database (GAD) FA2H Human Genome Epidemiology (HuGE) Navigator FA2H Atlas of Genetics and Cytogenetics in Oncology and Haematology: FA2H No data available for Genatlas for FA2H Gene Mutation of FA2H [genecards.org]
The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies. Neuroepidemiology. 2014; 42(3):174-83. [invitae.com]
Jorde LB et al. (1990) The UCLA-University of Utah epidemiologic survey of autism: genealogical analysis of familial aggregation. [^] 6. Abramson RK et al. (1989) Elevated blood serotonin in autistic probands and their first-degree relatives. [^] 7. [moldiag.com]
Epidemiology Worldwide, the prevalence of all hereditary spastic paraplegias combined is estimated to be 2 to 6 in 100,000 people. [15] A Norwegian study of more than 2.5 million people published in March 2009 has found an HSP prevalence rate of 7.4/100,000 [ipfs.io]
Pathophysiology
In this review, we summarise the clinical, genetic and pathophysiological features of this condition, and the investigations used in its diagnosis. [acnr.co.uk]
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]
Clinical manifestations, pathophysiology, and diagnosis of atrioventricular (AV) canal defects. UpToDate [online serial]. Waltham, MA: UpToDate; reviewed December 2013. Altman CA. [aetna.com]
Prevention
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]
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]
Still, the effects such as an increase in muscle strength, reduction of fatigue, prevention of spasms and muscle atrophy can be satisfying enough for one to continue exercising. [ic.steadyhealth.com]
Supportive care includes physical therapy, which helps to improve muscle strength, range of motion, prevent contractures of joints, and bedsores. [encyclopedia.com]
The majority of individuals with HSP have a normal life expectancy. [2] Treatment No specific treatment is known that would prevent, slow, or reverse HSP. [ipfs.io]