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]

• Hyperpigmentation

  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]

  […] consistent with any of the following: A relative with a known deleterious STK11 (LKB1) gene mutation; or A clinical diagnosis of PJS based on at least 2 of the following features: At least 2 PJS-type hamartomatous polyps of the small intestine; Mucocutaneous hyperpigmentation [aetna.com]

• Visual Impairment

  Warburg M: Visual impairment among people with developmental delay. J Intellect Dis Res 1994;38:423–432. Evenhuis HM: Medical aspects of ageing in a population with intellectual disability. II. Hearing impairment. J Intellect Dis Res 1995;39:27–33. [karger.com]

• Visual Impairment

  Warburg M: Visual impairment among people with developmental delay. J Intellect Dis Res 1994;38:423–432. Evenhuis HM: Medical aspects of ageing in a population with intellectual disability. II. Hearing impairment. J Intellect Dis Res 1995;39:27–33. [karger.com]

• Muscular Atrophy

  The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. [mybiosource.com]

  Atrophy AR 5.2 17 of 91 SMN2 Spinal Muscular Atrophy AR 7.6 0 of 3 SNAP25 Congenital Myasthenic Syndromes AD 100 6 of 6 SOX10 Peripheral Demyelinating Neuropathy, Waardenburg Syndrome AD 99.74 139 of 147 STAC3 Native American Myopathy AR 99.98 5 of 5 [igenomix.es]

  SPG17 is a motor neuron disease overlapping with distal spinal muscular atrophy type 5. [uniprot.org]

  SPG17 is a motor neuron disease overlapping with distal spinal muscular atrophy type 5. Defects in BSCL2 are a cause of distal hereditary motor neuropathy type 5 (HMN5) [MIM:600794]; also known aS distal hereditary motor neuropathy type V (DSMAV). [abcam.com]

  The peroneal type of progressive muscular atrophy. London: Lewis, 1886. [tankonyvtar.hu]

• Muscle Spasticity

  […] features from OMIM: 607584 UMLS symptoms related to Spastic Paraplegia 24, Autosomal Recessive: clonus, difficulty standing, muscle spasticity Drugs & Therapeutics for Spastic Paraplegia 24, Autosomal Recessive Genetic Tests for Spastic Paraplegia 24 [malacards.org]

  Many symptoms that are common in people with HSP are not directly caused by HSP but are instead caused indirectly by muscle spasticity, weakness, or hyperactive reflexes. Spasticity Spasticity is an increase in muscle tone with resulting stiffness. [emedicine.medscape.com]

  SPG4 is characterized by slowly progressive muscle weakness and spasticity (stiff or rigid muscles) in the lower half of the body. In rare cases, individuals may have a more complex form with seizures, ataxia, and dementia. [rarediseases.info.nih.gov]

  Spasticity primarily affects muscles of leg extension (quadriceps), knee flexion (hamstrings), hip adduction (bringing the knees together, thigh adductor muscles), and muscles that extend the feet (gastrocnemius-soleus [Achilles tendon]). [rarediseases.org]

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

• Lower Limb Muscle Atrophy

  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]

  limb muscle atrophy, hyperreflexia, extensor plantar responses, pes cavus and occasionally impaired vibration sense. [malacards.org]

  […] vibratory sense in the lower limbs Diminished vibratory sensation in the legs [ more ] 0002166 Lower limb muscle weakness Lower extremity weakness Lower limb weakness Muscle weakness in lower limbs [ more ] 0007340 Lower limb spasticity 0002061 Pes cavus [rarediseases.info.nih.gov]

• Macrocephaly

  In the group of males with idiopathic MR, the number of males with the combination of microcephaly and micro-orchidism was higher than expected, but not statistically significant and the number of males with the combination of macrocephaly and macro-orchidism [karger.com]

  or At least 2 biopsy-proven trichilemmomas; or Macrocephaly plus one other major criteria Footnotes * ; or Three major criteria Footnotes * without macrocephaly; or One major and at least three minor criteria Footnotes * ; or Four or more minor criteria [aetna.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]

• Onset in Adolescence

  ORPHA:100998 Synonym(s): SPG17 Silver syndrome Spastic paraplegia-amyotrophy of hands and feet Prevalence: Inheritance: Autosomal dominant Age of onset: Childhood, Adolescent, Adult ICD-10: G11.4 OMIM: 270685 UMLS: C2931276 MeSH: - GARD: 4219 MedDRA: [orpha.net]

• 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]

• 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]

• 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]

• 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]

  […] characterized by progressive, usually severe, lower extremity spasticity and weakness. [flybase.org]

  Spastic paraplegias are a diverse group of disorders in which the autosomal dominant forms are characterized by progressive, lower extremity spasticity caused by axonal degeneration in the terminal portions of the longest descending and ascending corticospinal [genecards.org]

  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]

  […] to slowly progressive lower extremity spasticity and weakness. [research.unipd.it]

• Babinski Sign

  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]

  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]

  III-1 III-3 Age at examination 63 53 Onset 58 48 Leg spasticity − + Limb ataxia + + Thigh muscle atrophy + + Patellar Tendon Reflex (PTR) − ++ Achilles Tendon Reflex (ATR) + − − Babinski sign + + Vibration sense Normal Normal Sphincter involvement − − [intechopen.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]

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]