EPILEPSY, PROGRESSIVE MYOCLONIC, 5

General Information (adopted from Orphanet):

Synonyms, Signs: EPM5
Number of Symptoms 19
OrphanetNr:
OMIM Id: 613832
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000639) Nystagmus 555 / 7739
2
(HPO:0000529) Progressive visual loss 54 / 7739
3
(HPO:0009830) Peripheral neuropathy 206 / 7739
4
(HPO:0001284) Areflexia 198 / 7739
5
(HPO:0002197) Generalized seizures 30 / 7739
6
(HPO:0001260) Dysarthria 329 / 7739
7
(HPO:0001310) Dysmetria 76 / 7739
8
(HPO:0001268) Mental deterioration 88 / 7739
9
(HPO:0001288) Gait disturbance 318 / 7739
10
(HPO:0001251) Ataxia 413 / 7739
11
(HPO:0002353) EEG abnormality 188 / 7739
12
(HPO:0002123) Generalized myoclonic seizures 62 / 7739
13
(HPO:0001761) Pes cavus 225 / 7739
14
(HPO:0003676) Progressive disorder 148 / 7739
15
(OMIM) Cerebral and cerebellar atrophy 1 / 7739
16
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
17
(HPO:0001317) Abnormality of the cerebellum 36 / 7739
18
(HPO:0003828) Variable expressivity 130 / 7739
19
(OMIM) Distal loss of vibratory sense 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Progressive myoclonic epilepsy is a neurodegenerative disorder characterized by myoclonic seizures and variable neurologic symptoms, including cognitive decline and persistent movement abnormalities (Bird and Shaw, 1978).

For a discussion of genetic heterogeneity of progressive myoclonic epilepsy, ...

Clinical Description OMIM Bird and Shaw (1978) reported a girl with juvenile-onset progressive myoclonic epilepsy. At age 15 years, she developed an awkward gait, clumsy hand coordination, deteriorating cognition, and nocturnal seizures associated with irregular EEG findings. The disorder was progressive, ...
Molecular genetics OMIM In the 2 sibs with progressive myoclonic epilepsy originally reported by Bird and Shaw (1978), Tao et al. (2011) identified a heterozygous mutation in the PRICKLE2 gene (608501.0001). An unrelated patient with myoclonic seizures was heterozygous for a ...