Each entry follows a 5 section structure that will cover (1) essential features of the disorder (2) physiological basis of the disorder (3) neuropsychological and other clinical presentation (4) assessment and diagnostic practices (5) evidence-based treatments [books.google.com]

[…] half of the patients presenting missense mutations. [jnnp.bmj.com]

ORPHA:171612 Synonym(s): SPG37 Prevalence: Inheritance: Autosomal dominant Age of onset: All ages ICD-10: G11.4 OMIM: 611945 UMLS: C2936880 MeSH: - GARD: - MedDRA: - The documents contained in this web site are presented for information purposes only. [orpha.net]

• Amyloidosis

  Science 323(5920): 1473–7 CrossRef PubMed Central PubMed Google Scholar Maat-Schieman M, Roos R, van Duinen S (2005) Hereditary cerebral hemorrhage with amyloidosis-Dutch type. [link.springer.com]

  Sotos syndrome 3 617169 612034 Autosomal recessive APOA1 11q23.3 Hypoalphalipoproteinemia 604091 107680 APOA1 11q23.3 Amyloidosis, 3 or more types 105200 107680 Autosomal dominant APOA2 1q23.3 {Hypercholesterolemia, familial, modifier of} 143890 107670 [mnglabs.com]

  Shibata Y, Matsushima M, Yabe I, Matsuda K, Nagai A, Kano T, Yamada T, Sekijima Y, Sasaki H Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis 24(1) 66-67 2017 [researchmap.jp]

• Vomiting

  The clinical phenotype is one of complicated HSP with the spastic paraparesis being associated with bilateral cataracts, gastroesophageal reflux with persistent vomiting, and distal amyotrophy secondary to an apparent axonal motor neuropathy. [jnnp.bmj.com]

• Torticollis

  Other neurological comorbidities in association with HSP identified in our cohort were single cases of confirmed secondary progressive Multiple Sclerosis, congenital torticollis, neurofibromatosis, schwannoma and cluster headache. [jnnp.bmj.com]

  Degenerative Extrapyramidal and movement disorders Basal ganglia disease : Parkinsonism ( PD, Postencephalitic, NMS ) · PKAN · Tauopathy ( PSP ) · Striatonigral degeneration · Hemiballismus · HD · OA Dyskinesia : Dystonia ( Status dystonicus, Spasmodic torticollis [psychology.wikia.com]

  Meningoencephalitis Brain / encephalopathy Degenerative Extrapyramidal and movement disorders Basal ganglia disease Parkinsonism PD Postencephalitic NMS PKAN Tauopathy PSP Striatonigral degeneration Hemiballismus HD OA Dyskinesia Dystonia Status dystonicus Spasmodic torticollis [maria-online.com]

• Muscle Cramp

  cramps Skeletal muscle atrophy Ankle clonus Lower limb hyperreflexia Impaired vibratory sensation Tremor Adult onset Limb ataxia Rare Symptoms - Less than 30% cases Progressive spasticity Impaired proprioception Lower limb amyotrophy Upper limb spasticity [mendelian.co]

  One clinical study reported that the mean age at first onset of muscle weakness was 41 years and that the most common presenting symptom was muscle cramps, followed by tremors and leg weakness. [31] Also reported was that muscle strength and function [emedicine.medscape.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]

• Spastic Paraplegia

  […] is SPG37 (Spastic Paraplegia 37 (Autosomal Dominant)). [malacards.org]

  Top matches: Low match SPASTIC PARAPLEGIA 73, AUTOSOMAL DOMINANT; SPG73 Autosomal dominant spastic paraplegia type 73 is a pure form of hereditary spastic paraplegia characterized by adult onset of crural spastic paraparesis, hyperreflexia, extensor plantar [mendelian.co]

  Genes and mapped phenotypes Gene ID: 100049159, updated on 8-Apr-2017 Summary Official Symbol SPG37 provided by HGNC Official Full Name spastic paraplegia 37 (autosomal dominant) provided by HGNC Primary source HGNC:HGNC:33472 See related MIM:611945 Gene [ncbi.nlm.nih.gov]

  Hereditary spastic paraplegia Bibliography Baraitser M. ; Motulsky AG, Bobrow M, Harper PS, Scriver C, editors.The Genetics of Neurological Disorders. 2nd ed. New York: Oxford University Press, 1990; 15, Spastic paraplegia/HSP. p. 275-90. [med.umich.edu]

• Spastic Gait

  Homepage Rare diseases Search Search for a rare disease Autosomal dominant spastic paraplegia type 37 Disease definition A pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive spastic gait, [orpha.net]

  […] progressive spastic paraplegia (with spastic gait, spasticity, lower limb weakness, pes cavus and urinary urgency) associated with the additional manifestation of peripheral sensorimotor neuropathy. [mendelian.co]

  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]

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

  Showing of 37 | 80%-99% of people have these symptoms Spastic gait Spastic walk 0002064 30%-79% of people have these symptoms Abnormal mitochondrial morphology 0008322 Attention deficit hyperactivity disorder Attention deficit Attention deficit disorder [rarediseases.info.nih.gov]

• Clonus

  Autosomal Recessive Symptoms & Phenotypes for Spastic Paraplegia 24, Autosomal Recessive Human phenotypes related to Spastic Paraplegia 24, Autosomal Recessive: 60 33 (show all 8) # Description HPO Frequency Orphanet Frequency HPO Source Accession 1 clonus [malacards.org]

  Ankle clonus is also reported in some patients. [orpha.net]

  Progressive pes cavus Pes cavus Progressive Slow progression Spinal cord lesion Hyperreflexia in upper limbs Muscle cramps Skeletal muscle atrophy Ankle clonus Lower limb hyperreflexia Impaired vibratory sensation Tremor Adult onset Limb ataxia Rare [mendelian.co]

  Most patients displayed pyramidal signs (i.e. increased reflexes in the lower limbs, extensor plantar reflexes, ankle clonus and muscle weakness in the lower limbs) and decreased vibration sense at ankles. [academic.oup.com]

  Deep tendon reflexes were increased in all patients with clonus in 3 and bilateral Babinski sign in 4. [bmcneurol.biomedcentral.com]

• Babinski Sign

  SPASTIC PARAPLEGIA 36, AUTOSOMAL DOMINANT; SPG36 Is also known as ;spg36 Related symptoms: Autosomal dominant inheritance Strabismus Peripheral neuropathy Hyperreflexia Babinski sign SOURCES: DOID UMLS MESH ORPHANET OMIM MONDO More info about SPASTIC [mendelian.co]

  Affiliated tissues include globus pallidus, skin and bone, and related phenotypes are babinski sign and lower limb hyperreflexia Disease Ontology : 12 A hereditary spastic paraplegia that has material basis in mutation in the CYP2U1 gene on chromosome [malacards.org]

  Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. [rarediseases.info.nih.gov]

  Deep tendon reflexes were increased in all patients with clonus in 3 and bilateral Babinski sign in 4. [bmcneurol.biomedcentral.com]

  Pedigree number Gender Age at examination (years) Onset of symptoms  (years) SPRS SARA INAS Hyperreflexia UL/LL Babinski sign Clonus Decreased vibration sense Bladder disturbances Degree of disability MMSE Other signs PED1/II-1 proband M 56 40 24/52 [omicsonline.org]

• 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]

  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]

  Given that both of these disorders are treatable, dopa-responsive dystonia should be excluded in a child with progressive gait disturbance and lower-extremity spasticity of unknown etiology, whereas arginase deficiency should be considered in a young [emedicine.medscape.com]

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

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

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 brings together nearly the entire spectrum of motor disorders and Neurology into one convenient resource to aid in a comprehensive evaluation, diagnosis, distinction, and treatment of various disorders. [books.google.es]

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]

Prognosis Edit Although HSP is a progressive condition and usually starts in the legs and spreads to other muscles, ultimately leading to confinement to bed, the prognosis for individuals with HSP varies greatly. [psychology.wikia.com]

This distinction is important for genetic counseling of family members and for the patient’s prognosis, in that HSP generally carries a more favorable prognosis. [2] Other components of the differential diagnosis of HSP are similar to those of PLS. [emedicine.medscape.com]

Disorders, the prognosis of which differs significantly from HSP, such as multiple sclerosis and familial motor neuron disease should also be excluded. The necessity for investigations will vary depending on the individual clinical picture. [jnnp.bmj.com]

Article / Publication Details First-Page Preview Abstract Objective: Investigation of etiological factors in mental retardation (MR). [karger.com]

Abstract We describe 4 siblings with spastic paraparesis and peroneal amyotrophy who were prone to severe pain and painful dysesthesias, tetraparesis and pyramidal signs during pyrexial episodes of variable etiology. [link.springer.com]

Primary lateral sclerosis The etiology of primary lateral sclerosis (PLS) is unknown, but it may be similar to that proposed for ALS. [emedicine.medscape.com]

Keppen L, Leppert M, O'Connell P (1987) Etiological heterogeneity in X-linked spastic paraplegia. Am J Hum Genet 41:933-43. Kobayashi H, Hoffman EP, Marks HG (1994) The rumpshaker mutation in spastic paraplegia. Nature Genet 7:351-2. [med.umich.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]

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

„Charcot-Marie-Tooth disease in Molise, a central-southern region of Italy: an epidemiological study.” Neuroepidemiology, 2002;21: 241-245. [tankonyvtar.hu]

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

The Global Epidemiology of Hereditary Ataxiaand Spastic Paraplegia: A systematic review of prevalence studies. Neuroepidemiology 2014; 24:174-183. Ashizawa T, Figueroa KP, Perlman SL, et al. [rarediseases.org]

„New insights into the pathophysiology of pes cavus in Charcot-Marie-Tooth disease type 1A duplication.” J Neurol, 2011;258: 1594-602. Berciano J, Sevilla T, Casasnovas C, Sivera R, Vílchez JJ, Infante J, Ramón C, Pelayo-Negro AL, Illa I. [tankonyvtar.hu]

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]

[…] and Neurosurgery, London, UK 3 Department of Neurology and Neurosurgery, Institute of Emergency Medicine, Chisinau, Republic of Moldova 4 Division of Pathology, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milano, Italy 5 Department of Pathophysiology [jnnp.bmj.com]

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

Pathophysiological insights into ALS with C9ORF72 expansions. Journal of Neurology, Neurosurgery and Psychiatry, 84(8), 931-935. [sydney.edu.au]

WI, USA TAT : 3-5 weeks price : $2,090.00 Pure Hereditary Spastic Paraplegia Sequencing Panel method(s): ◦ Sequencing, Next Gen PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA TAT : contact lab price [genetests.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]

To prevent further confusion the term HMSN type V should no longer be used. This study and further molecular genetic analyses suggest that families with the HMSN V phenotype should be subsumed under the complicated forms of HSP. [thieme-connect.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]

The majority of individuals with HSP have a normal life expectancy. [2] Treatment Edit No specific treatment is know that would prevent, slow, or reverse HSP. [psychology.wikia.com]