Emery-Dreifuss Muscular Dystrophy
- Skeletal & cardiac muscle are affected
- Early contractures (joint deformities)
- Upper arm/lower leg wasting
- Genetics
- X-linked
- EMD gene (most commonly), which forms emerin: a nuclear envelope protein.
- LMNA gene (less commonly), which forms lamin A/C
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Emery Dreifuss Muscular Dystrophy
Emery-Dreifuss Muscular Dystrophy
- Skeletal & cardiac muscle are affected
- Early contractures (joint deformities)
- Upper arm/lower leg wasting
- Genetics
- X-linked
- EMD gene (most commonly), which forms emerin: a nuclear envelope protein.
- LMNA gene (less commonly), which forms lamin A/C
The following is adapted, with permission, From Robert J. Schwartzman, MD Neurologic Examination (2006) Massachusetts, USA: Blackwell Publishing.
- Muscle wasting is often most severe in a humeroperoneal distribution.
- Some patients have hypertrophy of the extensor digitorum brevis muscle concomitant with prominent posterior leg wasting.
- There may be selective weakness of elbow flexion and finger extension.
- The muscle wasting may be most prominent in the posterior compartment of the leg and contractures of the quadratus lumborum of the lower back cause a rigid spine.
- Adult patients have flexion contractions of the wrist, elbows, ankles and neck.
- Cardiac involvement occurs between the second to fourth decades (EMD1) and third to fourth decades in (EMD2). The major features are atrial paralysis and dilated cardiomyopathy.