Progressive myoclonus epilepsy

Classification according to ICD-10
G40.3	Generalized idiopathic epilepsy and epileptic syndromes
ICD-10 online (WHO version 2019)

Progressive myoclonus epilepsies , or PME for short , are a group of hereditary diseases whose common feature is the occurrence of myoclonus and epileptic seizures . Myoclonia are rapid involuntary muscle twitches. The epileptic seizures occur as tonic-clonic, generalized or multifocal seizures. Most progressive myoclonus epilepsies are diseases with a severe disease course and severe impairment.

frequency

The diseases are rare and account for up to 1 percent of epilepsy in children and adolescents.

classification

The PME can be classified as follows:

• PME type 1 EPM1 Unverricht-Lundborg disease (ULD); Epilepsy, myoclonic progressive, type 1; Myoclonus epilepsy, progressive, type 1
• PME type 2 EPM2 Lafora disease ; Epilepsy, myoclonic progressive, type 2; Type 2 progressive myoclonus epilepsy
• PME type 3 EPM3 myoclonus epilepsy, progressive, due to KCTD7 deficiency
• PME type 4 EPM4 myoclonus nephropathy syndrome; Myoclonus epilepsy, progressive, type 4
• PME type 5 EPM5 myoclonus epilepsy, progressive, type 5
• PME type 6 EPM6 GOSR2-dependent progressive myoclonic ataxia; Myoclonus epilepsy, progressive, North Sea type
• PME type 7 EPM7 MEAK ; Myoclonus epilepsy and ataxia due to potassium channel defect; Myoclonus epilepsy, progressive, due to KV3.1 deficiency
• PME type 8 EPM8 myoclonus epilepsy, progressive, due to CERS1 deficiency
• PME type 9 EPM9 myoclonus epilepsy, progressive, due to LMNB2 deficiency

The following diseases also belong to this group:

• Myoclonus Epilepsy with Ragged Red Fibers (MERRF)
• Neural ceroid lipofuscinosis
• Sialidosis ("cherry red spot" myoclonus)
• Gaucher syndrome
• Tay-Sachs syndrome

diagnosis

As with other epileptic syndromes, the diagnosis is first made on the basis of the clinical picture and with the help of electroencephalography . Especially at the beginning of the disease, progressive myoclonus epilepsy can be difficult to distinguish from other syndromes from the group of epilepsy, which can make a correct diagnosis difficult at first. In most cases, however, a correct diagnosis succeeds in the course of the disease, as an increasing worsening of the symptoms, including the EEG findings, which is typical of progressive myoclonus epilepsies, and these are characterized by the very poor drug response.

Medical history

The term progressive myoclonus epilepsies was introduced by the Swedish doctor Herman Lundborg in 1903. As early as 1891 Heinrich Unverricht reported on a disorder that differed from other epilepsies in its familial occurrence and the occurrence of myoclonus. Lundberg referred to the Unverricht report in his publication. In 1973 Klaus Diebold published a classification in which two main groups of progressive myoclonus epilepsies were distinguished, core syndrome and marginal syndrome . Diebold defined the core syndrome as the full picture of myoclonus, epileptic seizures and other neurological symptoms such as increasing cognitive decline. Features of the main syndrome in conjunction with different associations of many neurological symptoms have been termed marginal syndrome.

literature

• JM Girard, J. Turnbull, N. Ramachandran, BA Minassian: Progressive myoclonus epilepsy. In: Handbook of clinical neurology. Volume 113, 2013, pp. 1731-1736, ISSN  0072-9752 . doi: 10.1016 / B978-0-444-59565-2.00043-5 . PMID 23622396 . (Review).

Individual evidence

1. ↑ ^{a b} L. F. de Siqueira: Progressive myoclonic epilepsies: review of clinical, molecular and therapeutic aspects. In: Journal of neurology. Volume 257, Number 10, October 2010, p. 1612, ISSN  1432-1459 . doi: 10.1007 / s00415-010-5641-1 . PMID 20593193 . (Review).
2. ^ Lafora disease. In: Orphanet (Rare Disease Database).
3. ^ Myoclonus epilepsy, progressive, type 3. In: Orphanet (database for rare diseases).
4. ↑ Action myoclonus - kidney failure. In: Orphanet (Rare Disease Database).
5. ^ Myoclonus epilepsy, progressive, type 5. In: Orphanet (database for rare diseases).
6. ^ Myoclonus epilepsy, progressive, type 6. In: Orphanet (database for rare diseases).
7. ^ Myoclonus epilepsy, progressive, type 7. In: Orphanet (database for rare diseases).
8. ^ Myoclonus epilepsy, progressive, type 8. In: Orphanet (Rare Diseases Database).
9. ^ Myoclonus epilepsy, progressive, type 9. In: Orphanet (Rare Diseases Database).
10. ↑ ^{a b c} Walter Fröscher : The epilepsies. Basics, clinic, treatment . Schattauer Verlag , 2004, ISBN 978-3-7945-2131-9 , p. 206
11. ↑ Klaus Diebold : The hereditary myoclonic-epileptic-dementia core syndromes. progressive myoclonus epilepsies - dyssynergia cerebellaris myoclonica - myoclonic variants of the three post-infantile forms of amaurotic idiocy . Springer Verlag, 1973, ISBN 3-540-06117-7

This article is about a health issue. It is not used for self-diagnosis and does not replace a diagnosis by a doctor. Please note the information on health issues !