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Spastic paraplegia epilepsy mental retardation(SPEMR)

MedGen UID:
356631
Concept ID:
C1866854
Disease or Syndrome
Synonyms: SPASTIC PARAPLEGIA, EPILEPSY, AND MENTAL RETARDATION; SPEMR
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: HPO
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
 
OMIM®: 182610
Orphanet: ORPHA2816

Clinical features

Monoparesis - leg
MedGen UID:
605376
Concept ID:
C0427068
Finding
Weakness of the muscles of the legs.
Seizure Disorders
MedGen UID:
4506
Concept ID:
C0014544
Disease or Syndrome
Epilepsy is a brain disorder that causes people to have recurring seizures. The seizures happen when clusters of nerve cells, or neurons, in the brain send out the wrong signals. People may have strange sensations and emotions or behave strangely. They may have violent muscle spasms or lose consciousness. Epilepsy has many possible causes, including illness, brain injury, and abnormal brain development. In many cases, the cause is unknown. Doctors use brain scans and other tests to diagnose epilepsy. It is important to start treatment right away. There is no cure for epilepsy, but medicines can control seizures for most people. When medicines are not working well, surgery or implanted devices such as vagus nerve stimulators may help. Special diets can help some children with epilepsy. NIH: National Institute of Neurological Disorders and Stroke.
Intellectual functioning disability
MedGen UID:
7544
Concept ID:
C0025362
Mental or Behavioral Dysfunction
Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.
Spastic paraparesis
MedGen UID:
52432
Concept ID:
C0037771
Sign or Symptom
Mild or moderate loss of motor function accompanied by spasticity in the lower extremities. This condition is a manifestation of CENTRAL NERVOUS SYSTEM DISEASES that cause injury to the motor cortex or descending motor pathways.
Spastic paraplegia
MedGen UID:
20882
Concept ID:
C0037772
Disease or Syndrome
Spasticity and weakness of the leg and hip muscles.
Spastic paraparesis
MedGen UID:
52432
Concept ID:
C0037771
Sign or Symptom
Mild or moderate loss of motor function accompanied by spasticity in the lower extremities. This condition is a manifestation of CENTRAL NERVOUS SYSTEM DISEASES that cause injury to the motor cortex or descending motor pathways.
Spastic paraplegia
MedGen UID:
20882
Concept ID:
C0037772
Disease or Syndrome
Spasticity and weakness of the leg and hip muscles.
Monoparesis - leg
MedGen UID:
605376
Concept ID:
C0427068
Finding
Weakness of the muscles of the legs.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSpastic paraplegia epilepsy mental retardation
Follow this link to review classifications for Spastic paraplegia epilepsy mental retardation in Orphanet.

Recent clinical studies

Etiology

Alrayes N, Mohamoud HS, Jelani M, Ahmad S, Vadgama N, Bakur K, Simpson M, Al-Aama JY, Nasir J
BMC Res Notes 2015 Jun 27;8:271. doi: 10.1186/s13104-015-1227-4. [Epub ahead of print] PMID: 26113134Free PMC Article
Pensato V, Castellotti B, Gellera C, Pareyson D, Ciano C, Nanetti L, Salsano E, Piscosquito G, Sarto E, Eoli M, Moroni I, Soliveri P, Lamperti E, Chiapparini L, Di Bella D, Taroni F, Mariotti C
Brain 2014 Jul;137(Pt 7):1907-20. Epub 2014 May 15 doi: 10.1093/brain/awu121. [Epub ahead of print] PMID: 24833714
Lamari F, Mochel F, Sedel F, Saudubray JM
J Inherit Metab Dis 2013 May;36(3):411-25. Epub 2012 Jul 20 doi: 10.1007/s10545-012-9509-7. [Epub ahead of print] PMID: 22814679
Al-Yahyaee S, Al-Gazali LI, De Jonghe P, Al-Barwany H, Al-Kindi M, De Vriendt E, Chand P, Koul R, Jacob PC, Gururaj A, Sztriha L, Parrado A, Van Broeckhoven C, Bayoumi RA
Neurology 2006 Apr 25;66(8):1230-4. doi: 10.1212/01.wnl.0000208501.52849.dd. PMID: 16636240
KOCH CA
J Pediatr 1964 Jul;65:1-11. PMID: 14178823

Diagnosis

Pensato V, Castellotti B, Gellera C, Pareyson D, Ciano C, Nanetti L, Salsano E, Piscosquito G, Sarto E, Eoli M, Moroni I, Soliveri P, Lamperti E, Chiapparini L, Di Bella D, Taroni F, Mariotti C
Brain 2014 Jul;137(Pt 7):1907-20. Epub 2014 May 15 doi: 10.1093/brain/awu121. [Epub ahead of print] PMID: 24833714
Mallaret M, Synofzik M, Lee J, Sagum CA, Mahajnah M, Sharkia R, Drouot N, Renaud M, Klein FA, Anheim M, Tranchant C, Mignot C, Mandel JL, Bedford M, Bauer P, Salih MA, Schüle R, Schöls L, Aldaz CM, Koenig M
Brain 2014 Feb;137(Pt 2):411-9. Epub 2013 Dec 24 doi: 10.1093/brain/awt338. [Epub ahead of print] PMID: 24369382Free PMC Article
Quéméner-Redon S, Bénech C, Audebert-Bellanger S, Friocourt G, Planes M, Parent P, Férec C
Eur J Med Genet 2013 Apr;56(4):211-5. Epub 2013 Jan 17 doi: 10.1016/j.ejmg.2013.01.001. [Epub ahead of print] PMID: 23333879
Turner G, Partington M, Kerr B, Mangelsdorf M, Gecz J
Am J Med Genet 2002 Nov 1;112(4):405-11. doi: 10.1002/ajmg.10714. PMID: 12376946
Sommerfelt K, Kyllerman M, Sanner G
Acta Neurol Scand 1991 Aug;84(2):157-60. PMID: 1950452

Therapy

Villani R, Tomei G, Gaini SM, Grimoldi N, Spagnoli D, Bello L
Childs Nerv Syst 1995 Mar;11(3):180-5. PMID: 7773981

Prognosis

Villani R, Tomei G, Gaini SM, Grimoldi N, Spagnoli D, Bello L
Childs Nerv Syst 1995 Mar;11(3):180-5. PMID: 7773981
Sommerfelt K, Kyllerman M, Sanner G
Acta Neurol Scand 1991 Aug;84(2):157-60. PMID: 1950452
KOCH CA
J Pediatr 1964 Jul;65:1-11. PMID: 14178823

Clinical prediction guides

Pensato V, Castellotti B, Gellera C, Pareyson D, Ciano C, Nanetti L, Salsano E, Piscosquito G, Sarto E, Eoli M, Moroni I, Soliveri P, Lamperti E, Chiapparini L, Di Bella D, Taroni F, Mariotti C
Brain 2014 Jul;137(Pt 7):1907-20. Epub 2014 May 15 doi: 10.1093/brain/awu121. [Epub ahead of print] PMID: 24833714
Mallaret M, Synofzik M, Lee J, Sagum CA, Mahajnah M, Sharkia R, Drouot N, Renaud M, Klein FA, Anheim M, Tranchant C, Mignot C, Mandel JL, Bedford M, Bauer P, Salih MA, Schüle R, Schöls L, Aldaz CM, Koenig M
Brain 2014 Feb;137(Pt 2):411-9. Epub 2013 Dec 24 doi: 10.1093/brain/awt338. [Epub ahead of print] PMID: 24369382Free PMC Article
Al-Yahyaee S, Al-Gazali LI, De Jonghe P, Al-Barwany H, Al-Kindi M, De Vriendt E, Chand P, Koul R, Jacob PC, Gururaj A, Sztriha L, Parrado A, Van Broeckhoven C, Bayoumi RA
Neurology 2006 Apr 25;66(8):1230-4. doi: 10.1212/01.wnl.0000208501.52849.dd. PMID: 16636240
Starling A, Rocco P, Cambi F, Hobson GM, Passos Bueno MR, Zatz M
Am J Med Genet 2002 Aug 1;111(2):152-6. doi: 10.1002/ajmg.10551. PMID: 12210342
Gigli GL, Diomedi M, Bernardi G, Placidi F, Marciani MG, Calia E, Maschio MC, Neri G
Am J Med Genet 1993 Mar 15;45(6):711-6. doi: 10.1002/ajmg.1320450610. PMID: 8456849

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