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Progressive myoclonus epilepsy with ataxia(EPM1B)

MedGen UID:
394003
Concept ID:
C2676254
Disease or Syndrome
Synonyms: EPILEPSY, PROGRESSIVE MYOCLONIC, 1B; EPM1B; PME; PRICKLE1-Related Progressive Myoclonus Epilepsy with Ataxia
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity).
SNOMED CT: PRICKLE1-related progressive myoclonic epilepsy with ataxia (702326000); Progressive myoclonic epilepsy 1B (702326000); Progressive myoclonus epilepsy with ataxia (702326000)
 
Gene (location): PRICKLE1 (12q12)
OMIM®: 612437

Disease characteristics

PRICKLE1-related progressive myoclonus epilepsy (PME) with ataxia is characterized by myoclonic seizures (lightning-like jerks), generalized convulsive seizures, varying degrees of neurologic decline especially manifest as ataxia, and normal intellectual abilities. Onset of symptoms is between ages five and ten years. Action myoclonus may affect the limbs or bulbar muscles, sometimes with spontaneous myoclonus of facial muscles. Marked dysarthria may occur. Seizures can be myoclonic or tonic-clonic and are often nocturnal. [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Characteristics  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
Authors:
Mark H Fox  |  Alexander G Bassuk   view full author information

Additional description

From GHR
PRICKLE1-related progressive myoclonus epilepsy with ataxia is a rare inherited condition characterized by recurrent seizures (epilepsy) and problems with movement. The signs and symptoms of this disorder usually begin between the ages of 5 and 10. Problems with balance and coordination (ataxia) are usually the first symptoms of PRICKLE1-related progressive myoclonus epilepsy with ataxia. Affected children often have trouble walking. Their gait is unbalanced and wide-based, and they may fall frequently. Later, children with this condition develop episodes of involuntary muscle jerking or twitching (myoclonus), which cause additional problems with movement. Myoclonus can also affect muscles in the face, leading to difficulty swallowing and slurred speech (dysarthria). Beginning later in childhood, some affected individuals develop tonic-clonic or grand mal seizures. These seizures involve a loss of consciousness, muscle rigidity, and convulsions. They often occur at night (nocturnally) while the person is sleeping. PRICKLE1-related progressive myoclonus epilepsy with ataxia does not seem to affect intellectual ability. Although a few affected individuals have died in childhood, many have lived into adulthood.  http://ghr.nlm.nih.gov/condition/prickle1-related-progressive-myoclonus-epilepsy-with-ataxia

Clinical features

Babinski sign
MedGen UID:
19708
Concept ID:
C0034935
Finding
A reflex found in normal infants consisting of dorsiflexion of the HALLUX and abduction of the other TOES in response to cutaneous stimulation of the plantar surface of the FOOT. In adults, it is used as a diagnostic criterion, and if present is a NEUROLOGIC MANIFESTATION of dysfunction in the CENTRAL NERVOUS SYSTEM.
Dysmetria
MedGen UID:
68583
Concept ID:
C0234162
Finding
Dysarthria
MedGen UID:
333395
Concept ID:
C1839743
Finding
Sensory axonal neuropathy
MedGen UID:
334116
Concept ID:
C1842587
Finding
Tremor
MedGen UID:
776582
Concept ID:
C2364114
Finding
Generalized myoclonic seizures
MedGen UID:
505115
Concept ID:
CN001923
Finding
Seizures with sudden, brief (< 100 msec) involuntary single or multiple contraction(s) of muscles(s) or muscle groups of variable topography (axial, proximal limb, distal).
Atonic seizures
MedGen UID:
451143
Concept ID:
CN116553
Finding
Seizures characterized by a sudden loss or diminution of muscle tone, which may be fragmentary, confined to a segment (limb, jaw, head), or massive, leading to a slumping to the ground .

Recent clinical studies

Etiology

Muona M, Berkovic SF, Dibbens LM, Oliver KL, Maljevic S, Bayly MA, Joensuu T, Canafoglia L, Franceschetti S, Michelucci R, Markkinen S, Heron SE, Hildebrand MS, Andermann E, Andermann F, Gambardella A, Tinuper P, Licchetta L, Scheffer IE, Criscuolo C, Filla A, Ferlazzo E, Ahmad J, Ahmad A, Baykan B, Said E, Topcu M, Riguzzi P, King MD, Ozkara C, Andrade DM, Engelsen BA, Crespel A, Lindenau M, Lohmann E, Saletti V, Massano J, Privitera M, Espay AJ, Kauffmann B, Duchowny M, Møller RS, Straussberg R, Afawi Z, Ben-Zeev B, Samocha KE, Daly MJ, Petrou S, Lerche H, Palotie A, Lehesjoki AE
Nat Genet 2015 Jan;47(1):39-46. Epub 2014 Nov 17 doi: 10.1038/ng.3144. [Epub ahead of print] PMID: 25401298Free PMC Article
Zeigler M, Meiner V, Newman JP, Steiner-Birmanns B, Bargal R, Sury V, Mengistu G, Kakhlon O, Leykin I, Argov Z, Abramsky O, Lossos A
J Neurol Sci 2014 Apr 15;339(1-2):210-3. Epub 2014 Jan 23 doi: 10.1016/j.jns.2014.01.022. [Epub ahead of print] PMID: 24485911
Girard JM, Turnbull J, Ramachandran N, Minassian BA
Handb Clin Neurol 2013;113:1731-6. doi: 10.1016/B978-0-444-59565-2.00043-5. PMID: 23622396
Kousi M, Anttila V, Schulz A, Calafato S, Jakkula E, Riesch E, Myllykangas L, Kalimo H, Topçu M, Gökben S, Alehan F, Lemke JR, Alber M, Palotie A, Kopra O, Lehesjoki AE
J Med Genet 2012 Jun;49(6):391-9. doi: 10.1136/jmedgenet-2012-100859. PMID: 22693283Free PMC Article
Corbett MA, Schwake M, Bahlo M, Dibbens LM, Lin M, Gandolfo LC, Vears DF, O'Sullivan JD, Robertson T, Bayly MA, Gardner AE, Vlaar AM, Korenke GC, Bloem BR, de Coo IF, Verhagen JM, Lehesjoki AE, Gecz J, Berkovic SF
Am J Hum Genet 2011 May 13;88(5):657-63. Epub 2011 May 5 doi: 10.1016/j.ajhg.2011.04.011. [Epub ahead of print] PMID: 21549339Free PMC Article

Diagnosis

Botross NP, Riad AA, Viswanathan S, Nordin RB, Lock HN
Scott Med J 2014 May;59(2):e1-6. Epub 2014 Mar 26 doi: 10.1177/0036933014529868. [Epub ahead of print] PMID: 24671628
Zeigler M, Meiner V, Newman JP, Steiner-Birmanns B, Bargal R, Sury V, Mengistu G, Kakhlon O, Leykin I, Argov Z, Abramsky O, Lossos A
J Neurol Sci 2014 Apr 15;339(1-2):210-3. Epub 2014 Jan 23 doi: 10.1016/j.jns.2014.01.022. [Epub ahead of print] PMID: 24485911
Girard JM, Turnbull J, Ramachandran N, Minassian BA
Handb Clin Neurol 2013;113:1731-6. doi: 10.1016/B978-0-444-59565-2.00043-5. PMID: 23622396
Boissé Lomax L, Bayly MA, Hjalgrim H, Møller RS, Vlaar AM, Aaberg KM, Marquardt I, Gandolfo LC, Willemsen M, Kamsteeg EJ, O'Sullivan JD, Korenke GC, Bloem BR, de Coo IF, Verhagen JM, Said I, Prescott T, Stray-Pedersen A, Rasmussen M, Vears DF, Lehesjoki AE, Corbett MA, Bahlo M, Gecz J, Dibbens LM, Berkovic SF
Brain 2013 Apr;136(Pt 4):1146-54. Epub 2013 Feb 28 doi: 10.1093/brain/awt021. [Epub ahead of print] PMID: 23449775
Corbett MA, Schwake M, Bahlo M, Dibbens LM, Lin M, Gandolfo LC, Vears DF, O'Sullivan JD, Robertson T, Bayly MA, Gardner AE, Vlaar AM, Korenke GC, Bloem BR, de Coo IF, Verhagen JM, Lehesjoki AE, Gecz J, Berkovic SF
Am J Hum Genet 2011 May 13;88(5):657-63. Epub 2011 May 5 doi: 10.1016/j.ajhg.2011.04.011. [Epub ahead of print] PMID: 21549339Free PMC Article

Therapy

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Epilepsia 1995 Aug;36(8):783-91. PMID: 7543407
Ohisalo JJ, Murros K, Fredholm BB, Hare TA
Arch Neurol 1983 Oct;40(10):623-5. PMID: 6412668

Prognosis

Farhan SM, Murphy LM, Robinson JF, Wang J, Siu VM, Rupar CA, Prasad AN; FORGE Canada Consortium, Hegele RA
Epilepsia 2014 Sep;55(9):e106-11. Epub 2014 Jul 24 doi: 10.1111/epi.12730. [Epub ahead of print] PMID: 25060828
Zeigler M, Meiner V, Newman JP, Steiner-Birmanns B, Bargal R, Sury V, Mengistu G, Kakhlon O, Leykin I, Argov Z, Abramsky O, Lossos A
J Neurol Sci 2014 Apr 15;339(1-2):210-3. Epub 2014 Jan 23 doi: 10.1016/j.jns.2014.01.022. [Epub ahead of print] PMID: 24485911
Boissé Lomax L, Bayly MA, Hjalgrim H, Møller RS, Vlaar AM, Aaberg KM, Marquardt I, Gandolfo LC, Willemsen M, Kamsteeg EJ, O'Sullivan JD, Korenke GC, Bloem BR, de Coo IF, Verhagen JM, Said I, Prescott T, Stray-Pedersen A, Rasmussen M, Vears DF, Lehesjoki AE, Corbett MA, Bahlo M, Gecz J, Dibbens LM, Berkovic SF
Brain 2013 Apr;136(Pt 4):1146-54. Epub 2013 Feb 28 doi: 10.1093/brain/awt021. [Epub ahead of print] PMID: 23449775
Pérez-Dueñas B, Toma C, Ormazábal A, Muchart J, Sanmartí F, Bombau G, Serrano M, García-Cazorla A, Cormand B, Artuch R
J Inherit Metab Dis 2010 Dec;33(6):795-802. Epub 2010 Sep 21 doi: 10.1007/s10545-010-9196-1. [Epub ahead of print] PMID: 20857335
Coppola G, Criscuolo C, De Michele G, Striano S, Barbieri F, Striano P, Perretti A, Santoro L, Brescia Morra V, Saccà F, Scarano V, D'Adamo AP, Banfi S, Gasparini P, Santorelli FM, Lehesjoki AE, Filla A
J Neurol 2005 Aug;252(8):897-900. Epub 2005 Mar 8 doi: 10.1007/s00415-005-0766-3. [Epub ahead of print] PMID: 15742102

Clinical prediction guides

Farhan SM, Murphy LM, Robinson JF, Wang J, Siu VM, Rupar CA, Prasad AN; FORGE Canada Consortium, Hegele RA
Epilepsia 2014 Sep;55(9):e106-11. Epub 2014 Jul 24 doi: 10.1111/epi.12730. [Epub ahead of print] PMID: 25060828
Blumkin L, Kivity S, Lev D, Cohen S, Shomrat R, Lerman-Sagie T, Leshinsky-Silver E
J Neurol 2012 Dec;259(12):2590-8. Epub 2012 May 26 doi: 10.1007/s00415-012-6545-z. [Epub ahead of print] PMID: 22638565
Mori S, Nakamura M, Yasuda T, Ueno S, Kaneko S, Sano A
J Hum Genet 2011 Oct;56(10):742-7. Epub 2011 Aug 18 doi: 10.1038/jhg.2011.93. [Epub ahead of print] PMID: 21850007
Pérez-Dueñas B, Toma C, Ormazábal A, Muchart J, Sanmartí F, Bombau G, Serrano M, García-Cazorla A, Cormand B, Artuch R
J Inherit Metab Dis 2010 Dec;33(6):795-802. Epub 2010 Sep 21 doi: 10.1007/s10545-010-9196-1. [Epub ahead of print] PMID: 20857335
Alakurtti K, Weber E, Rinne R, Theil G, de Haan GJ, Lindhout D, Salmikangas P, Saukko P, Lahtinen U, Lehesjoki AE
Eur J Hum Genet 2005 Feb;13(2):208-15. doi: 10.1038/sj.ejhg.5201300. PMID: 15483648

Recent systematic reviews

Wardle M, Morris HR, Robertson NP
Mov Disord 2009 Aug 15;24(11):1636-40. doi: 10.1002/mds.22642. PMID: 19514013
Virgilio R, Ronchi D, Bordoni A, Fassone E, Bonato S, Donadoni C, Torgano G, Moggio M, Corti S, Bresolin N, Comi GP
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Campanella G, Filla A, De Michele G
Acta Neurol (Napoli) 1992 Aug-Dec;14(4-6):408-19. PMID: 1293984

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