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]

• Developmental Delay

  SPG20 is characterized by dysarthria, distal amyotrophy, mild developmental delay and short stature. {ECO:0000269 PubMed:12134148}. Note=The disease is caused by mutations affecting the gene represented in this entry. [genecards.org]

  delay, early-onset refractory epilepsy, progressive spastic quadriplegia and contractures, and brain malformations. [panelapp.genomicsengland.co.uk]

  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]

  Michels Caskey syndrome Acrofacial dysostosis Catania type Colpocephaly Peutz-Jeghers syndrome Degos disease Hair defect with photosensitivity and mental retardation Absent breasts and nipples Alexander disease Tollner Horst Manzke syndrome Pili torti developmental [checkrare.com]

  Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 617069 188250 Autosomal recessive TKT 3p21.1 Short stature, developmental delay, and congenital heart defects 617044 606781 Autosomal recessive TLL1 4q32.3 Atrial [mnglabs.com]

• Developmental Disorder

  Diseases-Merit Cudkowicz, Massachusetts General Hospital · Paroxysmal Disorders-Solomon Moshe, Albert Einstein College of Medicine · Pediatric Neurology and Developmental Disorders-Tanjala Gipson and Deepa Menon, Kennedy Krieger Institute and Johns Hopkins [books.google.com]

• Cutis Laxa

  Gene OMIM (Gene) Associated diseases (OMIM) Inheritance CentoMD® exclusive variant numbers (++) ALDH18A1 138250 Cutis laxa, autosomal recessive, type IIIA; Spastic paraplegia 9A, autosomal dominant; spastic paraplegia 9B; Cutis laxa, autosomal dominant [centogene.com]

  Mental retardation, autosomal recessive 55 617051 616283 Autosomal recessive PYCR1 17q25.3 Cutis laxa, autosomal recessive, type IIIB 614438 179035 PYCR1 17q25.3 Cutis laxa, autosomal recessive, type IIB 612940 179035 Autosomal recessive PYGL 14q22.1 [mnglabs.com]

  LAXA, AUTOSOMAL DOMINANT 3 ADCL3 AUTOSOMAL RECESSIVE MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES (MRJHSL) SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT SPG9 Tags Green List (high evidence) ALS2 1 review 1 green [panelapp.genomicsengland.co.uk]

  […] congenita intestinal lymphangiectasia Sitosterolemia Benallegue Lacete syndrome Cutis laxa, autosomal dominant PMM2-CDG (CDG-Ia) Hereditary paraganglioma-pheochromocytoma Hereditary congenital facial paresis Crisponi syndrome Abetalipoproteinemia Rippling [checkrare.com]

• Psychomotor Retardation

  CCHLND is an autosomal recessive disorder characterized by congenital cataracts, severe psychomotor retardation, and hearing loss associated with decreased serum ceruloplasmin and copper. [slc.bioparadigms.org]

  Congenital cataracts, hearing loss, and neurodegeneration (CCHLND) [MIM:614482]: An autosomal recessive disorder characterized by congenital cataracts, severe psychomotor retardation, and hearing loss associated with decreased serum ceruloplasmin and [abcam.com]

  Disease description An autosomal recessive disorder characterized by congenital cataracts, severe psychomotor retardation, and hearing loss associated with decreased serum ceruloplasmin and copper. [uniprot.org]

  retardation seizure Spastic paraplegia and psychomotor retardation with or without seizures, 616756 Tags Green List (high evidence) HSPD1 3 reviews 2 green MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Sources Expert Review Green [panelapp.genomicsengland.co.uk]

• 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]

• Nystagmus

  […] spastic paraplegia type 8 in Poland. ( 28878906 ) Bogucki P....SobczyA8ska-Tomaszewska A. 2017 34 Multigeneration family with dominant SPG30 hereditary spastic paraplegia. ( 29159194 ) Roda R.H....Blackstone C. 2017 35 Patterns and modulations of Pendular nystagmus [malacards.org]

  In specific, isolated families, the following symptoms have included: Mental retardation Dementia Epilepsy Peripheral neuropathy Retinopathy Optic neuropathy Deafness Ataxia Dysarthria Nystagmus Families who experience complicated HSP can also have symptoms [disabled-world.com]

  Common clinical features included infantile-onset rotary nystagmus, progressive spastic paraplegia, neurologic regression, motor impairment, profound mental retardation, and hypomyelinating leukodystrophy. [genome.jp]

  Subacute necrotising encephalomyelopathy (Leigh’s disease) is a mitochondrial disorder of pyruvate metabolism and may present with developmental arrest, retinal pigmentation, optic atrophy, loss of vision, dementia, ophthalmoplegia, nystagmus, dystonia [jnnp.bmj.com]

  Summarizing previous reports and adding his own clinical and pathological observations, the three signs of Multiple sclerosis now known as Charcots triad 1 are nystagmus, intention tremor, and telegraphic speech, though these are not unique to MS. [wikivisually.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]

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]