ORPHA:684

Paramyotonia congenita of Von Eulenburg

Synonyms: Paramyotonia congenita

Type: Disease
Group: Disorder
Inheritance: Autosomal dominant
Age of onset: Adolescent, Childhood, Infancy, Neonatal
Status: active

A rare genetic skeletal muscle ion channel disorder, part of the non-dystrophic myotonias, characterized by exercise and/or cold-exacerbated myotonia.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Paramyotonia congenita of Von Eulenburg	Paramyotonia congenita
fr	Paramyotonie d'Eulenburg	Paramyotonie congénitale
de	Paramyotonia congenita Eulenburg
es	Paramiotonía congénita de Von Eulenburg	Paramiotonía congénita
it	Paramiotonia congenita di von Eulenburg	Paramiotonia congenita
nl	Paramyotonia congenita van Von Eulenburg	= en
pt	Paramiotonia congénita de Von Eulenburg
pl	Paramiotonia wrodzona Von Eulenburga	Paramiotonia wrodzona
cs	Eulenburgova vrozená paramyotonie	Vrozená paramyotonie
uk	Вроджена параміотонія фон Ейленберга	Вроджена параміотонія
zh	Von Eulenburg先天性副肌强直	先天性副肌强直
tr	Von Eulenburg'un Paramyotonia konjenitası	Paramiyotoni konjenita

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	168300	E		validated
ICD-10	G71.1	NTBT	inclusion	validated
ICD-11	8C74.0	E	specific	validated
MONDO	0008195	E		validated
UMLS	C0221055	E		validated
GARD	7325	E		validated
MedDRA	10088318	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Classification

Preferential parent (Orphanet linearisation):

ORPHA:98006Rare neurologic disease

Parents in the classifications (2):

ORPHA:206970Myotonic syndrome
rare genetic diseases; rare neurological diseases
ORPHA:98738Neurological muscular channelopathy due to a genetic sodium channel defect
rare genetic diseases; rare neurological diseases

No children.

Genes

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
SCN4A	Disease-causing germline mutation(s) in	Assessed	HGNC:10591	ENSG00000007314	603967	17q23.3	sodium voltage-gated channel alpha subunit 4	10369308[PMID]

Prevalence and incidence

4 records

Type	Class	Value	Area	Qualification	Validation	Source
Point prevalence	Unknown	—	Worldwide	Class only	Not yet validated	ORPHANET
Point prevalence	1-9 / 1 000 000	0.94 / 100 000	Netherlands	Value and class	Validated	29606556[PMID]
Point prevalence	1-9 / 1 000 000	—	Europe	Class only	Validated	ORPHANET_23516313[PMID]_29606556[PMID]
Point prevalence	1-9 / 1 000 000	0.17 / 100 000	United Kingdom	Value and class	Validated	23516313[PMID]

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

HPO phenotypes

19 annotations · validated 2018-07-09

HPO	Term (as annotated by Orphanet)	Diagnostic
Frequent (79-30%)
HP:0031372	Cold paresis
HP:0012904	Cold-sensitive myotonia
HP:0002015	Dysphagia
HP:0012892	Facial muscle hypertrophy
HP:0011968	Feeding difficulties
HP:0012899	Handgrip myotonia
HP:0003552	Muscle stiffness
HP:0003326	Myalgia
HP:0002486	Myotonia
HP:0012900	Myotonia of the face
HP:0012901	Myotonia of the jaw
HP:0012903	Myotonia of the upper limb
HP:0001319	Neonatal hypotonia
HP:0004875	Neonatal inspiratory stridor
HP:0011809	Paradoxical myotonia
HP:0010548	Percussion myotonia
Occasional (29-5%)
HP:0011042	Abnormality of potassium homeostasis
HP:0003458	EMG: myopathic abnormalities
HP:0008153	Periodic hypokalemic paresis

Annotation source: 8424309[PMID]_19015483[PMID]_18337100[PMID]_10727489[PMID]_21220685[PMID]

Sources for this card

Orphanet page: orpha.net/en/disease/detail/684
This record as JSON: /data/d/684.json