Neuromuscular syndromes are presented clinically either as a case study or as an overview from the literature, accompanied by text presenting molecular defects, and differential diagnosis. [books.google.com]

Rarely, it can present as a complex phenotype with additional manifestations including epilepsy, variable peripheral neuropathy and/or memory impairment. [orpha.net]

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]

At present, 18 loci have been linked to ADHSP, and 9 genes have been identified. [nature.com]

(Leu4221Val) were found in SACS in one consanguineous family, presenting with spastic ataxia and isolated cerebellar atrophy. [journals.plos.org]

• Epilepsy

  1 -> Epilepsy, nocturnal frontal lobe, 1 Nocturnal frontal lobe epilepsy 3 -> Epilepsy, nocturnal frontal lobe, 3 Nocturnal frontal lobe epilepsy 4 -> Epilepsy, nocturnal frontal lobe, 4 Spastic paraplegia 17 -> Spastic paraplegia 17, autosomal dominant [uniprot.org]

  Rarely, it can present as a complex phenotype with additional manifestations including epilepsy, variable peripheral neuropathy and/or memory impairment. [orpha.net]

  Complicated forms comprise several clinical entities combining spastic paraplegia with other neurological/non-neurological signs such as cerebellar ataxia, optic atrophy, retinitis pigmentosa, thinning of the corpus callosum, neuropathy, or epilepsy, [neurohic.com]

  […] familial)*** Childhood absence epilepsy (pyknolepsy)*** Epilepsy with grand mal seizures on awakening*** Juvenile:**** absence epilepsy**** myoclonic epilepsy (impulsive petit mal)*** Nonspecific epileptic seizures:**** atonic**** clonic**** myoclonic [mymemory.translated.net]

  Clinically, HSP can be classified as “complicated” or “complex” if the patient presents with other neurological and systemic features in addition to HSP, such as ataxia, dystonia, intellectual disability, dementia, optic atrophy, retinitis pigmentosa, epilepsy [dnatesting.uchicago.edu]

• Muscle Rigidity

  The symptoms of HSP can include the following: Abnormal gait Delayed walking Repeated tripping or falling Weakness of the leg muscles Rigidity and increased tone of the person's leg muscles People with uncomplicated HSP can also experience additional [disabled-world.com]

• Muscle Spasm

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

• Muscle Weakness

  In early onset cases spasticity is typically more prominent than muscle weakness, and motor delays may be observed (3). [dnatesting.uchicago.edu]

  weakness, mild muscle atrophy, decreased vibration sensation at ankles, and mild urinary dysfunction. [orpha.net]

  weakness and spasticity and has_material_basis_in mutation in the SPAST gene on chromosome 2p22. [informatics.jax.org]

  This means they have other symptoms in addition to the muscle weakness and spasticity. They may have a wide range of symptoms. [nhs.uk]

  Weakness is most notable at the iliopsoas muscles, the tibialis anterior muscles, and, to a lesser extent, the hamstring muscles. Muscle wasting may occur in patients with pure HSP. 37. [slideshare.net]

• Muscle Cramp

  Stretching exercises – These help to maintain or increase ROM and to reduce muscle cramps. Aerobic exercises – 51. These improve cardiovascular fitness, reduce fatigue, and increase endurance and general fitness. 52. [slideshare.net]

  cramps acral enlargement Johnson Munson syndrome Chromosome Xq28 deletion syndrome Hunter-McAlpine syndrome Neuroaxonal dystrophy, infantile Branchiootic syndrome Hereditary sensory and autonomic neuropathy type 2 Ring chromosome 12 Ichthyosis, leukocyte [checkrare.com]

  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]

• Long Arm

  Linkage analysis and haplotype construction permitted the identification of a novel ADPHSP locus on the long arm of chromosome 9, designated SPG19. [onlinelibrary.wiley.com]

  High impact information on SPG19 Linkage analysis and haplotype construction permitted the identification of a novel ADPHSP locus on the long arm of chromosome 9, designated SPG19 [1]. [wikigenes.org]

  Some people with IAHSP experience a deletion mutation in their ALS2 gene, located on the long arm of chromosome 2 at 2q33.2. HSP can be transmitted as an autosomal dominant, autosomal reseccive, or x-linked recessive trait. [disabled-world.com]

• Leg Cramp

  Many patients with HSP may not get their required amount sleep, because of leg cramps or spasms or as a result of the frequent need to urinate during the night. Stress and depression 59. THANK YOU [slideshare.net]

  These symptoms can include: Leg cramps Paresthesia Muscle spasms Highly arched feet Bladder control problems Relatively mild muscle wasting Diminished vibration sense in the feet Ankle clonus or abnormal reflex movements of the foot While it is less common [disabled-world.com]

  She first noticed gait disturbance and spasticity in the lower extremities together with nocturnal leg cramps and pain attacks in the upper limbs at age of 28 years. [omicsonline.org]

• Spastic Gait

  All modes of inheritance have been described, and the recent technological revolution in molecular genetics has led to the identification of 76 different spastic gait disease-loci with 59 corresponding spastic paraplegia genes. [scinapse.io]

  The clinical phenotype includes asymptomatic patients, mildly affected individuals with spastic gait but able to walk independently, and severely affected patients who were wheelchair bound. [link.springer.com]

  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]

  Spastic gait was absent in 9%, mild in 27%, and moderate or severe in 32%. [jamanetwork.com]

  If symptoms begin during the teenage years or later, then spastic gait disturbance usually progresses over many years. [ipfs.io]

• Hyperreflexia

  Search Search for a rare disease Autosomal dominant spastic paraplegia type 6 Disease definition A rare form of hereditary spastic paraplegia which usually presents in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia [orpha.net]

  The pure form presents isolated pyramidal signs such as spasticity, hyperreflexia, Babinski sign, and motor deficits, which can be associated with sphincter disorder and deep sensitivity alterations. [neurohic.com]

  People with spastic paraplegia type 31 can also experience progressive muscle wasting (amyotrophy) in the lower limbs, exaggerated reflexes (hyperreflexia), a decreased ability to feel vibrations, reduced bladder control, and high-arched feet ( pes cavus [ghr.nlm.nih.gov]

• Lower Extremity Spasticity

  Chapter First Online: 27 June 2014 Abstract Spastic paraplegia or paraparesis (SPG) is a group of genetically heterogeneous disorders, characterized predominantly by progressive lower extremity spasticity and weakness, with either autosomal dominant and [link.springer.com]

  The hereditary spastic paraplegias are a group of clinically and genetically diverse disorders characterized by progressive, usually severe, lower extremity spasticity; see reviews of {13:Fink et al. (1996)} and {14:Fink (1997)}. [diseaseinfosearch.org]

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

• Babinski Sign

  Affiliated tissues include skin, bone and eye, and related phenotypes are babinski sign and talipes equinovarus Disease Ontology : 12 A hereditary spastic paraplegia that has material basis in mutation in the ZFYVE27 gene on chromosome 10q24. [malacards.org]

  The pure form presents isolated pyramidal signs such as spasticity, hyperreflexia, Babinski sign, and motor deficits, which can be associated with sphincter disorder and deep sensitivity alterations. [neurohic.com]

  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]

• Paresis

  The first hypothesis was cerebral paresis with periventicular leukomalacia, although later rejected when neuroradiology was found normal. The family history of the girl was at the beginning unclear. [omicsonline.org]

  Spastic paresis, glaucoma and mental retardation. A probable autosomal recessive syndrome? Clin Genet 1986;30:416-21. [ Links ] Wessel K, Kessler CH, Rosengart A, Kompf D. Myoton�a congenita mit familiarer spastische Paraparese. [scielo.sld.cu]

  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]

High-arched feet (pescavus) are generally present and are usually prominent in older patients. workup Genetic Testing 43. Imaging Studies MRI scans may demonstrate atrophy of the spinal cord. [slideshare.net]

While this adds considerable challenges in the diagnostic workup, certain specific complicating features may guide the differential diagnosis between the different HSPs. [scielo.br]

It was a three-treatment crossover study with randomization of the six different sequences of the three-treatments. [frontiersin.org]

[…] disorders across the lifespan (pediatric, adult, and geriatric populations) Includes interventions and methods of treatment for the outcomes patients may experience [books.google.ro]

Key points for each genetic disease are identified to suggest treatment, when available, or the main clinical exams useful in follow-up of patients. [books.google.com]

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]

Hereditary Spastic Paraparesis - learn about the causes, symptoms, diagnosis treatment from the merck manuals - medical Consumer Version. [juimark.gewrichtspijn.amsterdam]

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]

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]

Ancas, deslocação da articulação da bacia All, rugs, on Sale - all, rugs on Sale 50-60 Off Spastic paraparesis information including symptoms, diagnosis, misdiagnosis, treatment, causes, patient stories, videos, forums, prevention, and prognosis. [juimark.gewrichtspijn.amsterdam]

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]

In a double-blind crossover trial involving two 14-day treatment periods, progabide was compared with placebo in 16 adults with spasticity, two of whom had a clinical diagnosis of HSP (with an unspecified molecular etiology) ( 9 ). [frontiersin.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]

In addition to clearly familial cases, a significant proportion of patients with sporadic spastic paraplegia also have a genetic etiology. [scielo.br]

"Parabens: a review of epidemiology, structure, allergenicity, and hormonal properties". "Predicting energy consumption and savings in the housing stock: A performance gap analysis in the netherlands." (2016). [juimark.gewrichtspijn.amsterdam]

Relevant External Links for NIPA1 Genetic Association Database (GAD) NIPA1 Human Genome Epidemiology (HuGE) Navigator NIPA1 Atlas of Genetics and Cytogenetics in Oncology and Haematology: NIPA1 No data available for Genatlas for NIPA1 Gene NIPA1 gene [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]

PATHOPHYSIOLOGY 6. Impaired cellular membrane trafficking 7. More particularly axonal transport of macromolecules and organelles. 8. Mutation of proteins, spastin and atlastin-1 causes impaired cellular membrane trafficking. [slideshare.net]

Pathophysiology HSPs are characterized by retrograde degeneration of the longest neurons of the spinal cord, the corticospinal tract and the posterior columns 35. [scielo.br]

PATHOPHYSIOLOGY HSPs are characterized by retrograde degeneration of the longest neurons of the spinal cord, the corticospinal tract and the posterior columns35. [tiptiktak.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]

The results suggest that inhibited endocytosis is part of the pathophysiological mechanisms leading to HSP in this family. [bmcneurol.biomedcentral.com]

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]

Blood transfusion products are screened for htlv-1 antibodies, as a preventive measure. [juimark.gewrichtspijn.amsterdam]

Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA TAT : 3-5 weeks price : $1,790.00 Hereditary Sensory and Autonomic Neuropathy Sequencing Panel method(s): ◦ Sequencing, Next Gen PreventionGenetics (Prevention Genetics), Clinical [genetests.org]

TREATMENT Currently, no specific treatment exists to prevent, retard, or reverse progressive disability in patients with HSP. [slideshare.net]

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]