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EPILEPSY, FAMILIAL ADULT MYOCLONIC, 2

General Information (adopted from Orphanet):

Synonyms, Signs:	FCMTE2 CORTICAL MYOCLONUS AND EPILEPSY, AUTOSOMAL DOMINANT BAFME2 CORTICAL MYOCLONIC TREMOR WITH EPILEPSY, FAMILIAL, 2 BENIGN ADULT FAMILIAL MYOCLONIC EPILEPSY 2 ADCME FAME2
Number of Symptoms	20
OrphanetNr:
OMIM Id:	607876
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence:	No data available.
Inheritance:	Autosomal dominant inheritance [Omim]
Age of onset:	Adult onset [Omim]

Disease classification (adopted from Orphanet):

Parent Diseases:

No data available.

Symptom Information: Sort by abundance

	Symptom Information	Symptom	Abundance	DB Freq
1	(HPO:0000643)	Blepharospasm		20 / 7739
2	(HPO:0001337)	Tremor		200 / 7739
3	(HPO:0001351)	Jerk-locked premyoclonus spikes		5 / 7739
4	(HPO:0100543)	Cognitive impairment	rare [HPO:skoehler]	230 / 7739
5	(HPO:0001336)	Myoclonus		115 / 7739
6	(HPO:0001340)	Enhancement of the C-reflex		5 / 7739
7	(HPO:0001249)	Intellectual disability	Rare [HPO:skoehler]	1089 / 7739
8	(HPO:0002069)	Generalized tonic-clonic seizures		96 / 7739
9	(HPO:0001326)	EEG with irregular generalized spike and wave complexes		3 / 7739
10	(HPO:0010852)	EEG with photoparoxysmal response		7 / 7739
11	(HPO:0001312)	Giant somatosensory evoked potentials		4 / 7739
12	(OMIM)	Electrophysiologic studies indicate cortical origin		3 / 7739
13	(OMIM)	Mental retardation has been reported		3 / 7739
14	(OMIM)	Movements ('tremors') characterized by 8 to 10-Hz discharges		3 / 7739
15	(HPO:0003581)	Adult onset		117 / 7739
16	(OMIM)	Involuntary rhythmic myoclonic movements ('tremor') of the distal extremities, usually fingers		3 / 7739
17	(HPO:0003680)	Nonprogressive disorder		23 / 7739
18	(OMIM)	Generalized tonic-clonic seizures (GTCS), infrequent		2 / 7739
19	(HPO:0000006)	Autosomal dominant inheritance		2518 / 7739
20	(OMIM)	EEG shows generalized and focal spike and wave complexes		2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol	Variation	Clinical significance	Reference

Additional Information:

Clinical Description OMIM

Guerrini et al. (2001) reported a large Italian kindred in which 11 individuals (8 living) over 5 generations were affected with an autosomal dominant disorder characterized by distal myoclonus and seizures. All affected members had onset in adulthood ... Guerrini et al. (2001) reported a large Italian kindred in which 11 individuals (8 living) over 5 generations were affected with an autosomal dominant disorder characterized by distal myoclonus and seizures. All affected members had onset in adulthood (mean 25 years) of distal, rhythmic involuntary movements resembling tremors, and infrequent generalized tonic-clonic seizures (GTCS). Three patients also had intractable complex partial seizures, which were often followed by secondary generalization. EEG showed focal frontotemporal as well as generalized interictal abnormalities. Detailed neurophysiologic studies revealed giant somatosensory evoked potentials (SEPs), enhanced long-loop C-reflexes, and premovement cortical spikes by the jerk-locked averaging method (JLA), suggesting a cortical origin. Guerrini et al. (2001) concluded that affected patients had diffuse cortical hyperexcitability and a high propensity for intra- and interhemispheric cortical spread. Neuropsychologic testing suggested that 3 members had mild to moderate mental retardation and several patients had low or low-normal intellectual functioning. Labauge et al. (2002) reported a 4-generation European family with clinical findings of FAME segregating in an autosomal dominant pattern. Ten living and 3 deceased members had onset of symptoms after age 30 and a history of myoclonic movements of the extremities, and 8 of 13 also had generalized tonic-clonic seizures. Five patients underwent electrophysiologic examination with findings consistent with the diagnosis of FAME. Dementia and cerebellar ataxia were absent. Linkage to FAME1 locus on chromosome 8 was excluded. De Falco et al. (2003) reported 2 Italian families with nonprogressive autosomal dominant BAFME. Cortical tremor was the presenting symptom in all affected patients, appearing at age 11 to 40 years (mean in the twenties). Most patients had infrequent seizures, and electrophysiologic studies were consistent with cortical origin. Treatment with adrenergic beta-blockers was ineffective, but anticonvulsants such as clonazepam and valproate were effective.

Symptoms & Signs

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