ORPHA:261

Emery-Dreifuss muscular dystrophy

Synonyms: EDMD

Type: Disease
Group: Disorder
Inheritance: Autosomal dominant, Autosomal recessive, X-linked recessive
Age of onset: Childhood
Status: active

A neuromuscular disease that is characterized by muscular weakness and atrophy, with early joint contractures and cardiomyopathy.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Emery-Dreifuss muscular dystrophy	EDMD
fr	Dystrophie musculaire d'Emery-Dreifuss	DMED · EDMD
de	Emery-Dreifuss Muskeldystrophie	EDMD · Emerinopathie
es	Distrofia muscular de Emery-Dreifuss
it	Distrofia muscolare di Emery-Dreifuss	EDMD · Emerinopatia
nl	Spierdystrofie van Emery-Dreifuss	= en
pt	Distrofia muscular de Emery-Dreifuss	EDMD · Emerinopatia
pl	Dystrofia Emery'ego i Dreifussa	EDMD · Emerynopatia
cs	Emeryova-Dreifussova svalová dystrofie	EDMD · Emery-Dreifussova svalová dystrofie
uk	Мязова дистрофія Емері-Дрейфуса	= en
zh	Emery-Dreifuss肌营养不良	= en
tr	Emery-Dreifuss kas distrofisi	= en

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	181350	BTNT		validated
OMIM	300696	BTNT		validated
OMIM	310300	BTNT		validated
OMIM	612998	BTNT		validated
OMIM	612999	BTNT		validated
OMIM	614302	BTNT		validated
OMIM	616516	BTNT		validated
ICD-10	G71.0	NTBT	inclusion	validated
ICD-11	8C70.2	E	specific	validated
MONDO	0016830	E		validated
MeSH	D020389	E		validated
UMLS	C0410189	E		validated
GARD	6329	E		validated
MedDRA	10081544	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 (3):

ORPHA:217610Neuromuscular disease with dilated cardiomyopathy
rare cardiac diseases; rare genetic diseases; rare transplant-related disorders
ORPHA:206644Progressive muscular dystrophy
rare genetic diseases; rare neurological diseases
ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases

Children (3):

Genes

0 direct · 7 via subtypes

Orphanet records no gene directly on this code.

Recorded by Orphanet on subtypes of this disorder:

Gene	Subtype	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
EMD	ORPHA:98863X-linked Emery-Dreifuss muscular dystrophy	Disease-causing germline mutation(s) in	Assessed	HGNC:3331	ENSG00000102119	300384	Xq28	emerin
FHL1	ORPHA:98863X-linked Emery-Dreifuss muscular dystrophy	Disease-causing germline mutation(s) in	Assessed	HGNC:3702	ENSG00000022267	300163	Xq26.3	four and a half LIM domains 1
LMNA	ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophy	Disease-causing germline mutation(s) in	Assessed	HGNC:6636	ENSG00000160789	150330	1q22	lamin A/C
LMNA	ORPHA:98855Autosomal recessive Emery-Dreifuss muscular dystrophy	Disease-causing germline mutation(s) in	Assessed	HGNC:6636	ENSG00000160789	150330	1q22	lamin A/C
SYNE1	ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophy	Disease-causing germline mutation(s) in	Not yet assessed	HGNC:17089	ENSG00000131018	608441	6q25.2	spectrin repeat containing nuclear envelope protein 1
SYNE2	ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophy	Disease-causing germline mutation(s) in	Not yet assessed	HGNC:17084	ENSG00000054654	608442	14q23.2	spectrin repeat containing nuclear envelope protein 2
TMEM43	ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophy	Disease-causing germline mutation(s) in	Assessed	HGNC:28472	ENSG00000170876	612048	3p25.1	transmembrane protein 43	21391237[PMID]

Prevalence and incidence

1 record

Type	Class	Value	Area	Qualification	Validation	Source
Point prevalence	1-9 / 1 000 000	0.3 / 100 000	Europe	Value and class	Validated	[EXPERT]

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

44 annotations · validated 2018-06-18

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0003236	Elevated circulating creatine kinase concentration
HP:0001387	Joint stiffness
HP:0006785	Limb-girdle muscular dystrophy
HP:0003198	Myopathy
HP:0002486	Myotonia
HP:0000767	Pectus excavatum
HP:0001315	Reduced tendon reflexes
Frequent (79-30%)
HP:0030117	Absent muscle fiber emerin
HP:0001771	Achilles tendon contracture
HP:0003418	Back pain
HP:0004631	Decreased cervical spine flexion due to contractures of posterior cervical muscles
HP:0003458	EMG: myopathic abnormalities
HP:0002987	Elbow flexion contracture
HP:0001288	Gait disturbance
HP:0002155	Hypertriglyceridemia
HP:0003141	Increased LDL cholesterol concentration
HP:0008956	Proximal lower limb amyotrophy
HP:0008994	Proximal muscle weakness in lower limbs
HP:0008997	Proximal muscle weakness in upper limbs
HP:0008948	Proximal upper limb amyotrophy
HP:0003805	Rimmed vacuoles
HP:0003691	Scapular winging
HP:0003306	Spinal rigidity
HP:0000912	Sprengel anomaly
HP:0030051	Tip-toe gait
HP:0011807	Type 1 muscle fiber atrophy
HP:0002515	Waddling gait
Occasional (29-5%)
HP:0001678	Atrioventricular block
HP:0001644	Dilated cardiomyopathy
HP:0003307	Hyperlordosis
HP:0001252	Hypotonia
HP:0008064	Ichthyosis
HP:0002808	Kyphosis
HP:0009125	Lipodystrophy
HP:0001513	Obesity
HP:0000508	Ptosis
HP:0002650	Scoliosis
HP:0005115	Supraventricular arrhythmia
Very rare (<4-1%)
HP:0001639	Hypertrophic cardiomyopathy
HP:0002747	Respiratory insufficiency due to muscle weakness
HP:0001645	Sudden cardiac death
HP:0005155	Ventricular escape rhythm
HP:0001605	Vocal cord paralysis
Excluded (0%)
HP:0001249	Intellectual disability

Run the differential on the 7 obligate / very frequent terms

Annotation source: 5969090[PMID]_10838246[PMID]_10377322[PMID]_4697975[PMID]_17620497[PMID]_15148145[PMID]_17761684[PMID]_19716112[PMID]_21391237[PMID]

Sources for this card

Orphanet page: orpha.net/en/disease/detail/261
This record as JSON: /data/d/261.json