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]

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]

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

• Anosmia

  615048 615903 Autosomal dominant CHD2 15q26.1 Epileptic encephalopathy, childhood-onset 615369 602119 Autosomal dominant CHD4 12p13.31 Sifrim-Hitz-Weiss syndrome 617159 603277 Autosomal dominant CHD7 8q12.2 Hypogonadotropic hypogonadism 5 with or without anosmia [mnglabs.com]

• Hypertension

  Sleep apnea Obstructive Congenital central hypoventilation syndrome Narcolepsy Cataplexy Kleine–Levin Circadian rhythm sleep disorder Advanced sleep phase disorder Delayed sleep phase disorder Non-24-hour sleep–wake disorder Jet lag CSF Intracranial hypertension [maria-online.com]

• Muscle Spasticity

  spasticity Drugs & Therapeutics for Spastic Paraplegia 24, Autosomal Recessive Genetic Tests for Spastic Paraplegia 24, Autosomal Recessive Anatomical Context for Spastic Paraplegia 24, Autosomal Recessive MalaCards organs/tissues related to Spastic [malacards.org]

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

  Treatment for HSP is presently limited to symptomatic reduction of muscle spasticity, reduction in urinary urgency, and strength and gait improvement through physical therapy. [link.springer.com]

• Leg Pain

  pain 0012514 Memory impairment Forgetfulness Memory loss Memory problems Poor memory [ more ] 0002354 Specific learning disability 0001328 Percent of people who have these symptoms is not available through HPO Adult onset Symptoms begin in adulthood [rarediseases.info.nih.gov]

• Psychiatric Manifestation

  Of note, the vast majority of the mutations associated with psychiatric manifestations are loss-of-function mutations affecting the AAA functional domain. [jnnp.bmj.com]

• Incontinence

  Affiliated tissues include spinal cord, and related phenotypes are urinary urgency and urinary incontinence [malacards.org]

  Diseases related with Muscle weakness and Urinary incontinence In the following list you will find some of the most common rare diseases related to Muscle weakness and Urinary incontinence that can help you solving undiagnosed cases. [mendelian.co]

  […] lateral corticospinal tracts 0002314 Gait ataxia Inability to coordinate movements when walking 0002066 Hyperreflexia Increased reflexes 0001347 Lower limb spasticity 0002061 Spastic paraplegia 0001258 Urinary bladder sphincter dysfunction 0002839 Urinary incontinence [rarediseases.info.nih.gov]

  62% (87/141) Proximal muscle weakness in the lower limbs 54% (113/208) Distal muscle weakness in the lower limbs 36% (64/179) Distal muscle wasting 9% (16/176) Decreased vibration sense at ankles (abolished) 58% (111/208) (11% 24/208) Urinary urgency/incontinence [academic.oup.com]

  Pes cavus was found in nearly all patients; urge incontinence was the only urinary symptom and it was seen in only one patient from pedigree SPG182 and three patients in pedigree SPG189. [jnnp.bmj.com]

• Urinary Urgency

  Affiliated tissues include spinal cord, and related phenotypes are urinary urgency and urinary incontinence [malacards.org]

  Other features may include upper limb spasticity, impaired vibration sense in the distal lower limbs, and urinary urgency or incontinence (summary by de Bot et al., 2013 ).For a general phenotypic description and a discussion of genetic heterogeneity [mendelian.co]

  urgency Overactive bladder 0000012 5%-29% of people have these symptoms Abnormality of the cerebral white matter 0002500 Cerebral cortical atrophy Decrease in size of the outer layer of the brain due to loss of brain cells 0002120 Dysarthria Difficulty [rarediseases.info.nih.gov]

  Pyramidal signs were variably associated with several clinical features that are often observed in pure spastic paraplegia, such as decreased vibration sense in the lower limbs (58%), urinary urgency (38%), pes cavus (21%) and scoliosis (5%). [academic.oup.com]

  - Bladder Control Urinary urgency normal Urinary urgency normal normal Pes cavus Ulcerations on legs no no no no Outcome Bedridden Ambulatory Wheelchair Ambulatory Ambulatory At examination (Table 1 ), a single patient had mild developmental cognitive [bmcneurol.biomedcentral.com]

• Urinary Incontinence

  Affiliated tissues include spinal cord, and related phenotypes are urinary urgency and urinary incontinence [malacards.org]

  Diseases related with Muscle weakness and Urinary incontinence In the following list you will find some of the most common rare diseases related to Muscle weakness and Urinary incontinence that can help you solving undiagnosed cases. [mendelian.co]

  incontinence Loss of bladder control 0000020 Showing of 37 Last updated: 7/1/2019 Making a diagnosis for a genetic or rare disease can often be challenging. [rarediseases.info.nih.gov]

• Spastic Paraplegia

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

  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]

  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]

  Human Genetics 2007 Hereditary spastic paraplegias (HSPs) are genetically and phenotypically heterogeneous. Both “uncomplicated” and “complicated… (More) [semanticscholar.org]

  Six new chapters cover congenital myasthenic syndromes, hereditary spastic paraplegia, ion channel disorders, the phakomatoses, beta-galactosidase deficiency, and prion diseases. [books.google.com]

• 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]

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

  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

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

  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]

  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]

  sign 0003487 Cerebellar atrophy Degeneration of cerebellum 0001272 Impaired vibration sensation in the lower limbs Decreased lower limb vibratory sense Decreased vibratory sense in lower limbs Decreased vibratory sense in the lower extremities Decreased [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]

  Spastic paraplegia is a group of clinically and genetically heterogeneous neurodegenerative disorders characterized by lower extremity spasticity and weakness. [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]

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]

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]

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]

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]

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]