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

1 Russell-Silver syndrome with cleft palate: a case report. ( 30515601 ) 2018 2 Russell-Silver syndrome presenting with ambiguous genitalia. ( 27998648 ) Chang IF...Lee NC 2017 3 Seminoma in a Man with Russell-Silver Syndrome Presenting with Testicular [malacards.org]

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]

• Hemophilia A

  FANCD) Fragile X syndrome, FRAXA (FMR1) (see below) Friedreich's ataxia (FRDA (frataxin)) Galactosemia (GALT) Gaucher disease (GBA (acid beta glucosidase)) Gitelman's syndrome Hemoglobin E thalassemia Footnotes ** Hemoglobin S and/or C Footnotes ** Hemophilia [aetna.com]

• Epilepsy

  0/315 1/191 [0.5%] Stewart et al.36 5 Idiopathic general epilepsies (IGE) 12/1234 [1%] 6/3022 [0.2%] De Kovel et al.29 6 Childhood absence epilepsy (CAE) 3/198 [1.5%] 0/400 Jiang et al.37 7 Amyotrophic lateral sclerosis 15/4434[0.34%] 15/14618[0.1%] [omicsonline.org]

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

  For example, a person with pure HSP may have peripheral neuropathy caused by diabetes, or he or she may have unrelated epilepsy. Additional symptoms The classic symptom of HSP is progressive difficulty in walking, but the severity varies. [emedicine.medscape.com]

  […] members in a pedigree, the association could have been coincidental, given the high prevalence of epilepsy in the community. [jnnp.bmj.com]

  Parkinsonism, dementia, and epilepsy are treated according to the respective guidelines. [centogene.com]

• Short Stature

  Stature, and Russell-Silver Syndrome. ( 26731248 ) Hodge N...Viana G 2015 15 Paternal duplication of the 11p15 centromeric imprinting control region is associated with increased expression of CDKN1C in a child with Russell-Silver syndrome. ( 26358311 [malacards.org]

  These deletions manifested as severe neonatal hypotonia, learning disabilities, behavioural problems, and short stature [ 11 ]. [omicsonline.org]

  stature, craniofacial dysmorphism, and congenital heart defects B3GAT3 Muscular dystrophy-dystroglycanopathy FKTN Myelodysplastic syndrome, somatic TET2 Myoclonus Dystonie SGCE Myopathy due to myoadenylate deaminase deficiency AMPD1 Myotonia Congenita [meduniwien.ac.at]

  Fryns JP, Haspeslagh M, Dereymaeker AM, Volcke Ph, Van den Berghe H: A peculiar subphenotype in the fra(X) syndrome: Extreme obesity – short stature – stubby hands and feet – diffuse hyperpigmentation: Further evidence of disturbed hypothalamic dysfunction [karger.com]

  This HSP is characterized by early onset of spastic paraplegia, motor development delaying, mental retardation, dysmorphic features (short stature, round face, low anterior hairline, dental crowding, short broad neck, mild brachycephalic microcephaly, [intechopen.com]

• Camping

  Fransen E, Van Camp G and Vits L (1997) L1‐associated diseases: clinical geneticists divide, molecular geneticists unite. Human Molecular Genetics 6(10): 1625–1632. [els.net]

  Mitochondrion. 2011; 11 :70–5. [ PubMed : 20656066 ] Vits L, Chitayat D, Van Camp G, Holden JJ, Fransen E, Willems PJ. Evidence for somatic and germline mosaicism in CRASH syndrome. [ncbi.nlm.nih.gov]

  Australia: Wanneroo, Samford Valley, Mount Gravatt East, Altona North, Caroline Springs, Bulleen, Kensington, Gladesville, Menai, Bondi Beach, Wellington Point, Mount Lawley, Annerley, Tewantin, Box Hill North, Sunshine North, Yokine, Batemans Bay, Camp [maria-online.com]

  Smith RHJ, Shearer AE, Hildebrand MS, Van Camp G. Deafness and hereditary hearing loss overview. GeneReviews [Internet]. RA Pagon, MP Adam, HH Ardinger, et al., eds. Seattle, WA: University of Washington, Seattle; updated January 9, 2014. [aetna.com]

• Pathologist

  He is also now Associate Pathologist (Neuropathology) at St. Michael’s Hospital, Toronto. Dr. Bilbo is a past Chief Examiner, Section of Neuropathology, for the Royal College of Physicians and Surgeons of Canada. [books.google.com]

  PMID: 24603320 Assay Assay and technical information Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion [invitae.com]

• Failure to Thrive

  […] to thrive, immunocompetence, family history, and trend toward worsening or improvement. [aetna.com]

• 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]

• Hypotension

  […] sleep disorder Advanced sleep phase disorder Delayed sleep phase disorder Non-24-hour sleep–wake disorder Jet lag CSF Intracranial hypertension Hydrocephalus / NPH Choroid plexus papilloma Idiopathic intracranial hypertension Cerebral edema Intracranial hypotension [maria-online.com]

• Thenar Muscle Atrophy

  High-arched foot 0001761 Slow progression Signs and symptoms worsen slowly with time 0003677 Spastic paraplegia 0001258 Thenar muscle atrophy 0003393 Thenar muscle weakness 0003427 Showing of 25 | Last updated: 12/1/2018 Making a diagnosis for a genetic [rarediseases.info.nih.gov]

• Urinary Incontinence

  For the past year he has been confined to a wheelchair with both urinary and faecal incontinence. At 34 years he developed hallucinations, paranoid ideation, and mood swings. [jnnp.bmj.com]

  Some people also experience urinary problems; eg, incontinence or a sense of urgency even when the bladder is not full. [4] A study by Kanavin and Fjermestad found that of 108 adults with hereditary spastic paraplegia (HSP), 30.5% suffered from urinary [emedicine.medscape.com]

  incontinence Loss of bladder control 0000020 Variable expressivity 0003828 Showing of 39 | Last updated: 5/1/2019 SPG4 is inherited in an autosomal dominant manner. [2] This means that having a change ( mutation ) in only one copy of the responsible [rarediseases.info.nih.gov]

  SPG48 Two siblings in the one French family have pure adult-onset spastic paraplegia and urinary incontinence with hyperintensity of the cervical spinal cord (C3-4,7) in one sibling as the only distinguishing magnetic resonance imaging (MRI) feature [ [intechopen.com]

• Spastic Paraplegia

  Homepage Rare diseases Search Search for a rare disease Autosomal dominant spastic paraplegia type 17 Disease definition A complex hereditary spastic paraplegia characterized by progressive spastic paraplegia, upper and lower limb muscle atrophy, hyperreflexia [orpha.net]

  MalaCards based summary : Spastic Paraplegia 17, also known as spastic paraplegia with amyotrophy of hands and feet, is related to spastic paraplegia 17, autosomal dominant and silver-russell syndrome. [malacards.org]

  Silver spastic paraplegia syndrome spastic paraplegia 17 spastic paraplegia with amyotrophy of hands and feet SPG17 Cafforio G, Calabrese R, Morelli N, Mancuso M, Piazza S, Martinuzzi A, Bassi MT, Crippa F, Siciliano G. [ghr.nlm.nih.gov]

• Ataxia

  Friedreich ataxia was the most frequent AR-HCA, followed by ataxia with oculomotor apraxia or ataxia-telangiectasia. [karger.com]

  X-linked nonsyndromic sensorineural deafness type DFN Autosomal dominant nonsyndromic intellectual deficit Spinocerebellar ataxia type 12 Spinocerebellar ataxia type 17 Pulverulent cataract Spinocerebellar ataxia type 14 Achromatopsia Barth syndrome [csbg.cnb.csic.es]

  (Leu4221Val) in SACS with a relatively slowly progressive recessive spastic ataxia with onset in the teens. [journals.plos.org]

  (SCAs), Friedreich ataxia, spastic ataxia of Charlevoix-Saguenay, etc. [centogene.com]

  Some patients additionally present with parkinsonism or ataxia. [intechopen.com]

• Hyperreflexia

  Homepage Rare diseases Search Search for a rare disease Autosomal dominant spastic paraplegia type 17 Disease definition A complex hereditary spastic paraplegia characterized by progressive spastic paraplegia, upper and lower limb muscle atrophy, hyperreflexia [orpha.net]

  60 Very frequent (99-80%) 8 difficulty standing 33 HP:0003698 Symptoms via clinical synopsis from OMIM: 58 Neurologic Central Nervous System: spasticity hyperreflexia clonus difficulty standing walking on tiptoes more Clinical features from OMIM: 607584 [malacards.org]

• Cerebellar Ataxia

  Palau F, Espinós C: Autosomal recessive cerebellar ataxias. Orphanet J Rare Dis 2006;1:47. le Ber I, Brice A, Dürr A: New autosomal recessive cerebellar ataxias with oculomotor apraxia. Curr Neurol Neurosci Rep 2005;5: 411-417. [karger.com]

  HSP due to LYST mutation We encountered an autosomal-recessive (AR) HSP family with cerebellar ataxia and neuropathy whose gene locus was not linked to previously reported AR-HSP loci. [intechopen.com]

  ataxia X-linked nonsyndromic sensorineural deafness type DFN Autosomal dominant nonsyndromic intellectual deficit Spinocerebellar ataxia type 12 Spinocerebellar ataxia type 17 Pulverulent cataract Spinocerebellar ataxia type 14 Achromatopsia Barth syndrome [csbg.cnb.csic.es]

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

  Nielsen, J.E., Johnsenc, B., Koefoed, P., et al., Hereditary spastic paraplegia with cerebellar ataxia: a complex phenotype associated with a new SPG4 gene mutation, Eur. J. Neurol., 2004, vol. 11, no. 12, pp. 817–824. [link.springer.com]

• Spastic Gait

  Showing of 25 | 30%-79% of people have these symptoms Babinski sign 0003487 Foot dorsiflexor weakness Foot drop 0009027 Hand muscle atrophy Hand muscle degeneration 0009130 Hyperreflexia Increased reflexes 0001347 Spastic gait Spastic walk 0002064 5%- [rarediseases.info.nih.gov]

  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]

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

Most PNS disorders are secondary to other system disorders and may be responsive to treatment of the primary disease. [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]

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]

Last updated: Dec 17, 2018 at 16:40 Name masatoyo nishizawa Published Papers Plain Text 1 2 3 4 > [Clinical features of poor-prognosis patients with adult bacterial meningitis] Shimohata T, Yanagawa K, Tanaka K, Nishizawa M Rinsho shinkeigaku = Clinical [researchmap.jp]

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]

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]

The presence of syndactyly seems to represent a different genetic variant of LQTS also associated with a poor prognosis. [aetna.com]

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

[…] syndrome. ( 24065356 ) Brioude F....Netchine I. 2013 23 Myoclonus-dystonia syndrome associated with Russell Silver syndrome. ( 23703955 ) Augustine E.F....Mink J.W. 2013 24 Limb lengthening in children with Russell-Silver syndrome: a comparison to other etiologies [malacards.org]

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]

Candidates for diagnostic testing include infants, children, and adults with generalized hypotonia and proximal muscle weakness of unknown etiology. [aetna.com]

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]

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]

Magzhanov, R.V., Saifullina, E.V., Idrisova, R.F., et al., Epidemiological characteristics of hereditary spastic paraplegia in the Republic of Bashkortostan, Med. Genet., 2013, vol. 12, no. 7, pp. 12–16. Google Scholar 4. [link.springer.com]

See Hereditary Peripheral Neuropathies Testing Algorithm in Special Instructions Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test Inherited peripheral neuropathies are a relatively [mayomedicallaboratories.com]

„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]

Medicine, University of Athens, Athens, Greece Georgios Koutsis, Marios Panas, Markella Baklou, Marianthi Breza & Georgia Karadima Division of Pathology, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milano, Italy Arianna Tucci Department of Pathophysiology [nature.com]

Clinical manifestations, pathophysiology, and diagnosis of atrioventricular (AV) canal defects. UpToDate [online serial]. Waltham, MA: UpToDate; reviewed December 2013. Altman CA. [aetna.com]

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]

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]

[…] the SPAST gene. [1] [2] Severity of symptoms usually worsens over time, however some individuals remain mildly affected throughout their lives. [3] Medications, such as antispastic drugs and physical therapy may aid in stretching spastic muscles and preventing [rarediseases.info.nih.gov]

The long nerves (axons) are prevented from doing their critical job of sending the right signals to control the muscles. HSP is classified as an upper motor neurone neurodegenerative disease. [hspersunite.org.au]

While pharmacotherapies have made some impact on the prevention of SCD, the introduction of implantable cardioverter-defibrillator (ICD) therapy has been the single major advance in the prevention of SCD in the young. [aetna.com]