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Start free with EleplanAutosomal dominant Emery-Dreifuss muscular dystrophy
ORPHA:98853Etiological subtype
Also called EDMD2
What it is
Orphanet has not published a description for this disease yet. The identifiers, classification and cross-references below are still current.
Key facts
- Age of onset
- Childhood
- Inheritance
- Autosomal dominant
- Classified as
- Etiological subtype
Recorded for the broader condition
- Prevalence
- 1-9 / 1 000 000 (Europe)Emery-Dreifuss muscular dystrophy
Orphanet records these for the broader condition rather than for this specific form. They are a starting point, not a figure for this subtype — subtypes often differ, and some are defined by being rarer than the condition they sit under.
Signs and symptoms
Very common80–99%
7Common30–79%
20- Absent muscle fiber emerin
- Achilles tendon contracture
- Back pain
- Decreased cervical spine flexion due to contractures of posterior cervical muscles
- Elbow flexion contracture
- EMG: myopathic abnormalities
- Gait disturbance
- Hypertriglyceridemia
- Increased LDL cholesterol concentration
- Proximal lower limb amyotrophy
- Proximal muscle weakness in lower limbs
- Proximal muscle weakness in upper limbs
- Proximal upper limb amyotrophy
- Rimmed vacuoles
- Scapular winging
- Spinal rigidity
- Sprengel anomaly
- Tip-toe gait
- Type 1 muscle fiber atrophy
- Waddling gait
Sometimes5–29%
11- Atrioventricular block
- Dilated cardiomyopathy
- Hyperlordosis
- Hypotonia
- Ichthyosis
- Kyphosis
- Lipodystrophy
- Obesity
and 3 more in this range
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Genes
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Benefit programs to look at
Programs whose eligibility touches the same ICD-10 categories. Eligibility is decided by the administering agency, never by this page.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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