HSP can be classified as pure or uncomplicated if no additional findings are present (2). Age of onset of HSP can range from early childhood to late adulthood. [dnatesting.uchicago.edu]

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]

RESULTS Six patients from two families presented with a slowly progressive, autosomal recessive, spastic tetraplegia. [jnnp.bmj.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]

Subtle childhood abnormalities may be present, but the main features develop in early adulthood. The disease is slowly progressive, and cerebellar and extrapyramidal signs are also found in patients with advanced disease. [uniprot.org]

• Pathologist

  Tissue pathways for urological pathology The target primary users of the tissue pathway are trainee and consultant cellular pathologists. These recommendations will also be of value to trainee/qualified biomedical scientists involved in... [evidence.nhs.uk]

  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]

  Some level of improvement was shown to be maintained 24 weeks post-treatment. [34] Speech language pathologists may use both behavioral intervention strategies as well as augmentative and alternative communication devices to help patients with impaired [en.wikipedia.org]

• Developmental Delay

  Delay, Digitotalar Dysmorphism, Freeman-Sheldon Syndrome, Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome, Sheldon-Hall Syndrome AD,AR 99.97 69 of 69 NEB Nemaline Myopathy, Childhood-Onset Nemaline Myopathy, Distal Nebulin Myopathy AR 86.77 [igenomix.es]

  Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly. [ncbi.nlm.nih.gov]

• Camping

  Mitochondrion. 2011; 11 :70–5. [ PubMed : 20656066 ] Vits L, Chitayat D, Van Camp G, Holden JJ, Fransen E, Willems PJ. Evidence for somatic and germline mosaicism in CRASH syndrome. [ncbi.nlm.nih.gov]

• 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]

• Hearing Impairment

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

• Hyperreflexia

  The gait is spastic with weakness, hyperreflexia, and extensor plantar responses in the lower limbs. The upper limbs are variably involved and movements are dysmetric. Dysarthria and bladder dysfunction are often present. [disorders.eyes.arizona.edu]

  […] 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]

  Hyperreflexia of the lower as well as the upper limbs was also observed. Brain MRI findings were similar to that of patient II3. [omicsonline.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]

  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]

• Lower Extremity Spasticity

  Genetic counseling Hereditary Spastic Paraplegia (HSP) is a group of clinically and genetically heterogeneous disorders characterized by lower extremity spasticity and weakness. [asperbio.com]

  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]

  Different genetic loci for autosomal recessive, autosomal dominant, and x-linked forms of hereditary spastic paraplegia have been identified. Clinically, patients present with slowly progressive distal limb weakness and lower extremity spasticity. [icd10data.com]

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

  “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

  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]

  Detailed neurological examination showed predominantly bilateral proximal pronounced paresis (3/4) of the lower limbs with hyperreflexia and positive bilateral Babinski sign. He also complains about urinary urgency. [omicsonline.org]

  III-1 III-3 Age at examination 63 53 Onset 58 48 Leg spasticity − + Limb ataxia + + Thigh muscle atrophy + + Patellar Tendon Reflex (PTR) − ++ Achilles Tendon Reflex (ATR) + − − Babinski sign + + Vibration sense Normal Normal Sphincter involvement − − [intechopen.com]

• Apraxia

  polyneuropathy, telangiectasia Yes Huh et al. [ 57 ] Early onset ataxia, oculomotor apraxia, telangiectasia Yes Song et al. [ 58 ] Early onset ataxia, frequent infections, telangiectasia No Kang et al. [ 59 ] Early onset ataxia, oculomotor apraxia, [e-jmd.org]

  Ataxia with Oculomotor Apraxia Type 2. PMID 20301333. NBK1154. In GeneReviews Pulst, Stefan-M (1 March 2012). Spinocerebellar Ataxia Type 13. PMID 20301404. NBK1225. [en.wikipedia.org]

  Friedreich ataxia was the most frequent AR-HCA, followed by ataxia with oculomotor apraxia or ataxia-telangiectasia. [karger.com]

  BMJ Case Reports 2009年 大脳にび慢性脳血流低下を認めた孤発性AOA1 (ataxia with ocular apraxia type 1) - 末梢神経障害を伴う脊髄小脳変性症の1例 池田将樹,甘利雅邦,平柳公利,藤田清香,嶋崎晴雄,瀧山嘉久,高玉真光,岡本幸市 群馬県核医学研究会誌 23(1) 17-19 2008年 若年者の脳梗塞：線維筋性異形成と脳梗塞 嶋崎晴雄 BRAIN and NERVE-神経研究の進歩 60(10) 1125-33 2008年 A large [kyouingyousekidb.jichi.ac.jp]

• Extrapyramidal Symptoms

  […] such as spastic tetraplegia, muscular atrophy, extrapyramidal symptoms, sensory impairment, cerebellar ataxia, epileptic seizures, and an extremely thin corpus callosum on brain MRI. [4] The estimated prevalence for HSP of all types ranges from 1:100,000 [neurologyindia.com]

  None of the patients exhibited extrapyramidal symptoms or signs. Imaging Findings All of the patients underwent brain and whole spine MR imaging. The age of patients at imaging studies varied between 16 and 42 years. [ajnr.org]

  Abstract Hereditary ataxia is a heterogeneous disorder characterized by progressive ataxia combined with/without peripheral neuropathy, extrapyramidal symptoms, pyramidal symptoms, seizure, and multiple systematic involvements. [e-jmd.org]

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

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]

Treatment of acute hyperkalaemia in adults [PDF] This guideline has been developed to improve the treatment of acute hyperkalaemia and reduce the risk of complications associated with hyperkalaemia and its treatment. This guideline is a... [evidence.nhs.uk]

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]

Treatment Treatment Options: No effective treatment is known for the neurological deficits but cataract surgery may be beneficial for visually significant cataracts. [disorders.eyes.arizona.edu]

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]

Gene therapy may not work against all types of genetic disease, and it remains to be seen if any of the HSPs are candidates for this type of treatment. [medschool.lsuhsc.edu]

Determining the molecular basis of disease using genetic testing can be useful in predicting prognosis and disease course, and can aid in identification of at-risk family members. [dnatesting.uchicago.edu]

Abstract Although SPG11 is the most common complicated hereditary spastic paraplegia, our knowledge of the long-term prognosis and life expectancy is limited. [nature.com]

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: 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]

Hereditary Spastic Paraplegia Etiology HSP is a highly genetically heterogeneous group of disorders (4). 70-80% of HSP is inherited in an autosomal dominant manner, and the majority of dominant HSP is classified as uncomplicated or pure HSP (2). [dnatesting.uchicago.edu]

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]

Hereditary cerebellar ataxias are a clinically, pathologically, and etiologically heterogeneous group of disorders [ 1, 2 ]. [e-jmd.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]

[…] neurosensory hearing loss type DFN - X-linked nonsyndromic sensorineural hearing loss type DFN Classification (Orphanet): - Rare genetic disease - Rare otorhinolaryngologic disease Classification (ICD10): - Diseases of the ear and mastoid process - Epidemiological [csbg.cnb.csic.es]

Case control studies and epidemiological studies, including genetic sequencing of ARCA, are needed in Korea. [e-jmd.org]

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

Suicide prevention Everything NICE has said on preventing suicide in community and residential custodial and detention settings in an interactive flowchart Bipolar disorder Everything NICE has said on recognising, assessing and managing bipolar disorder [evidence.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]

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]

Treatment [ edit ] 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. [en.wikipedia.org]