In addition, some patients present without a family history. [link.springer.com]

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 SPG12 Keywords Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]

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]

If the production of the normal or the abnormal transcript were gender dependent, it might provide an explanation for the sex difference observed in the present family. [jmg.bmj.com]

• Weakness

  Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. [malacards.org]

  […] symptoms include difficulty with balance, weakness and stiffness in legs, muscle spasms, and dragging of toes when walking. [medical-dictionary.thefreedictionary.com]

  Although the disorder is typically referred to as hereditary spastic paraplegia the degree of weakness is variable and ranges from no weakness (full strength) to marked weakness (paraplegia). [rarediseases.org]

• Fever

  39(8):963-5 Details Marini C, Mei D, Temudo T, Ferrari AR, Buti D, Dravet C, Dias AI, Moreira A, Calado E, Seri S, Neville B, Narbona J, Reid E, Michelucci R, Sicca F, Cross HJ, Guerrini R (2007), “Idiopathic epilepsies with seizures precipitated by fever [neuroscience.cam.ac.uk]

  […] autosomal dominant 605280 118190 Autosomal dominant HSPG2 1p36.12 Dyssegmental dysplasia, Silverman-Handmaker type 224410 142461 Autosomal recessive HSPG2 1p36.12 Schwartz-Jampel syndrome, type 1 255800 142461 Autosomal recessive HTR1A 5q12.3 Periodic fever [mnglabs.com]

  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]

• Infertility

  If at any time during the first breeding season following the sale a bull is injured so as to make them functionally infertile, we will provide you with a satisfactory replacement (if available), or issue you a credit equal to the bull’s purchase price [bjangus.com]

• Muscle Spasm

  Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. [uniprot.org]

  spasms, and dragging of toes when walking. [medical-dictionary.thefreedictionary.com]

• 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]

  To date, treatment of HSPs is primarily directed symptomatically towards reducing muscle spasticity. [els.net]

• Muscle Cramp

  cramps 611773 120130 Autosomal dominant COL4A1 13q34 {Hemorrhage, intracerebral, susceptibility to} 614519 120130 COL4A1 13q34 Porencephaly 1 175780 120130 Autosomal dominant COL4A1 13q34 Brain small vessel disease with or without ocular anomalies 607595 [mnglabs.com]

• Incontinence

  In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. [uniprot.org]

  Some forms are characterised by urinary incontinence or weakness and stiffness in other parts of the body; type 12 is characterised by onset between age 25–40, variably accompanied by cerebellar syndrome, supranuclear palsy and cognitive impairment, with [medical-dictionary.thefreedictionary.com]

  In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. {ECO:0000269 PubMed:22232211}. [genecards.org]

• Spastic Paraplegia

  MalaCards based summary : Spastic Paraplegia 12, Autosomal Dominant, also known as spg12, is related to spastic paraplegia 12 and hereditary spastic paraplegia 51, and has symptoms including urgency of micturition An important gene associated with Spastic [malacards.org]

  paraplegia type 12 (SPG12, sequence analysis of RTN2 gene) Hereditary spastic paraplegia, AD (NGS panel of 12 genes) [cgcgenetics.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]

  Spastic paraplegia type 31 is one of a group of genetic disorders known as hereditary spastic paraplegias. [ghr.nlm.nih.gov]

• Hyperreflexia

  OMIM : 58 Spastic paraplegia-12 is an autosomal dominant neurodegenerative disorder characterized by lower limb spasticity and hyperreflexia, resulting in walking difficulties. Some patients may have urinary symptoms and distal sensory impairment. [malacards.org]

  Neurologic examination revealed hyperreflexia and spasticity in the lower extremities, weakness of hip flexion and ankle dorsiflexion, extensor plantar response, diminished vibratory sense in the feet, and pes cavus. [neurology.org]

  People with this condition can also experience exaggerated reflexes (hyperreflexia), ankle spasms, high-arched feet (pes cavus), and reduced bladder control. [ghr.nlm.nih.gov]

  […] 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]

• Spastic Gait

  The original description of hereditary spastic paraplegia was made by Strümpell in 1880. He described “a pure spastic movement disorder of the legs” in 2 brothers who developed a spastic gait at the ages of 37 and 56 years. [medlink.com]

  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

  Neurologic examination revealed hyperreflexia and spasticity in the lower extremities, weakness of hip flexion and ankle dorsiflexion, extensor plantar response, diminished vibratory sense in the feet, and pes cavus. [neurology.org]

  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]

  […] characterized by progressive, usually severe, lower extremity spasticity and weakness. [flybase.org]

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

• Myoclonus

  Exostosen, multiple hereditäre Osteochondrome, HME, HMO EXT1, EXT2 Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects B3GAT3 Muscular dystrophy-dystroglycanopathy FKTN Myelodysplastic syndrome, somatic TET2 Myoclonus [meduniwien.ac.at]

  306 5 Alexander病（Alexander disease）（fibrinoid leukodystrophy） 308 6 那須・Hakola病（Nasu-Hakola disease） 311 7 ミトコンドリア脳筋症（mitochondrial encephalomyopathy） 313 1 慢性進行性外眼筋麻痺症候群（chronic progressive external ophthalmoplegia: CPEO） 313 2 赤色ぼろ線維・ミオクローヌスてんかん症候群（myoclonus [rnavi.ndl.go.jp]

  Mental retardation, X-linked 100 300923 300521 X-linked recessive KIF5A 12q13.3 Spastic paraplegia 10, autosomal dominant 604187 602821 Autosomal dominant KIF5A 12q13.3 Myoclonus, intractable, neonatal 617235 602821 Autosomal dominant KIF7 15q26.1 Joubert [mnglabs.com]

It is divided into the following sections: Overview Differential Diagnoses & Workup Treatment & Medication Follow-up Multimedia [hspersunite.org.au]

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]

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]

Ali Fatemi Oxford University Press, 18.08.2016 - 1488 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]

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]

劣性遺伝(1), 統合脳・病態脳(55) 研究分野 内科系臨床医学 / 神経内科学 / 神経科学 / 神経科学一般 / 経歴 テキストで表示 1 2 3 > 2004年 - 2009年 新潟大学 脳研究所 教授 2003年 - 2004年 新潟大学 医学部 教授 2000年 国際医療福祉大学 教授 1999年 国際医療福祉大学 保健学部 教授 1998年 自治医科大学 医学部・神経内科 助教授 論文 テキストで表示 1 2 3 4 > [Clinical features of poor-prognosis [researchmap.jp]

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]

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

Relevant External Links for RTN2 Genetic Association Database (GAD) RTN2 Human Genome Epidemiology (HuGE) Navigator RTN2 Atlas of Genetics and Cytogenetics in Oncology and Haematology: RTN2 No data available for Genatlas for RTN2 Gene Molecular cloning [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]

An epidemiological and clinical study. Brain. 1991 ; 114 (Pt 2 ): 855 - 66. 3. Hazan, J, Fontaine, B, Bruyn, RP, Lamy, C, van Deutekom, JC, Rime, CS, et al. Linkage of a new locus for autosomal dominant familial spastic paraplegia to chromosome 2p. [cambridge.org]

The majority of individuals with HSP have a normal life expectancy. [16] Epidemiology [ edit ] Worldwide, the prevalence of all hereditary spastic paraplegias combined is estimated to be 2 to 6 in 100,000 people. [34] A Norwegian study of more than 2.5 [en.wikipedia.org]

The identification and molecular characterization of additional HSP genes is key to improve our understanding of the underlying pathophysiology. [grantome.com]

His translational research-oriented laboratory focuses on autoimmune mechanisms in autism, PANDAS, the neurobiology of tics, and the pathophysiology of stereotypic movements in animal models. [books.google.de]

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]

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]

It gives diagnostic certainty, prevents further unnecessary investigations and opens the possibility of predictive and prenatal testing. [link.springer.com]

- Not having an iron core in the rotor prevents cogging caused by magnetic induction; hence the rotation is smooth, with minimum noise and vibration. - By utilizing rare earth magnet with high magnetic properties together with a rotor in basket configuration [namikisingapore.com.sg]

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