Muscular dystrophy close to Duchenne dystrophinopathy (of which it has long been considered a minor form). Estimated prevalence: 1 to 2/100,000. 

Depending on the causal mutation and the transmission mode, a distinction is made between:

• X-linked Emery-Dreifuss muscular dystrophy type1 (EDMD1) [MIM 310 300]: X-linked transmission of a mutation of the EMD gene (Xq28) coding for  emerin (nuclear membrane protein); contractures are often more debilitating than the muscle weakness; cardiac arrhythmias and risk of sudden death justifying an internal defibrillator.
• X-linked Emery-Dreifuss muscular dystrophy type 2 (EDMD6) [MIM 300 696]: X-linked transmission of a mutation of the FHL1 gene (Xq27.2); sometimes rigid spine due to a contracture of the paravertebral muscles; 10-20 % of the carriers have cardiac conduction disorders. Other mutations of this gene produce familial obstructive cardiomyopathy or X-linked scapulo-peroneal muscular dystrophy [MIM 300 695]
• Emery-Dreifuss muscular dystrophy of autosomal dominant transmission (EDMD2) [MIM 181 350]: mutation of the LMNA gene (1q21.2) coding for laminins A and C; phenotype identical to type 1. This is the most common form.
• Emery-Dreifuss muscular dystrophy of autosomal recessive transmission (EDMD3)[MIM616 516]: mutation of the LMNA gene (1q21.2) coding for laminins A and C; also called Hauptmann-Tannhauser muscular dystrophy
• Nesprin-related muscular dystrophy 1 (EDMD4) [MIM 612 998]:  autosomal dominant transmission of a mutation of the SYNE1 gene (6q25. 2) coding for spectrin from the nuclear envelope (nesprin deficiency 1).
• Nesprin-related muscular dystrophy 2 (EDMD5) [MIM 612,999]:  autosomal dominant transmission of a mutation of the SYNE2 gene (14q23. 2) coding for spectrin from the nuclear envelope (nesprin deficiency 2)
• LUMA-linked muscular dystrophy (EDMD7) [MIM 614 302]: autosomal dominant transmission of a mutation of the TMEM43 gene (3p25.1) coding for the transmembranar protein 43

Clinical onset around 4-5 years of age for EMD1, in the 2nd decade for EMD6. Early contractures. Muscle atrophy and muscle weakness in the humeral and peroneal territories (shoulder, arms, legs). Cardiac involvement: atrioventricular block, tachyarrhythmias (necessitating the implantation of a  pacemaker and/or internal defibrillator), left ventricular dysfunction, cardiomyopathy (mostly in the EMD6 form ) which sometimes requires a heart transplantation

Anesthetic implications: 

it is typically recommended to avoid the halogenated agents and succinylcholine, and to use TIVA with propofol, but cases where sevoflurane was used without problems have been reported. Echocardiography and preoperative ECG. Difficult intubation in case of contracture of the muscles of the neck. Risk of sudden death, even among patients with a pacemaker. This is why many patients suffering from EMD2 benefit of an internal defibrillator (to be disabled during surgery while keeping the pacemaker function).

References : 

-         Aldwinckle RJ, Carr AS. 
The anesthetic management of a patient with Emery-Dreifuss muscular dystrophy for orthopedic surgery. 
Can J Anesth 2002; 49: 467-70.

-         Choudhry DK, Mackenzie WG. 
Anesthetic issues with hyperextended cervical spine in a child with Emery-Dreifuss syndrome. 
Anesth Analg 2006; 103: 1611-3.

-         Kim OMO, Elliott D. 
Elective casesarean section for a woman with Emery-Dreifuss muscular dystrophy. 
Anaesth Intensive Care 2010; 38: 744-7.

-        Hermans MCE, Pinto YM, Merkies ISJ, de Die-Smulders CEM, Crijns JHGM, Faber CG.
hereditary muscular dystrophies and the heart. 
Neuromuscul Disord 2010; 20: 479-92. (link to PDF)

-        Funnell A, Morgan J, McFadzean W. 
Anaesthesia and orphan disease: management of cardiac and perioperative risks in a patient with Emery-Dreifuss muscular dystrophy. 
Eur J Anaesthesiol 2012; 29: 596-8.

-        Mercuri E, Muntoni F. 
Muscular dystrophies. 
Lancet 2013 ; 381 :845-60. 

-        Benarroch L, Bonne G, Rivier F, Hamroun D.
The 2020 version of the gene table of neuromuscular disorders.
Neuromusc Dis 2019 ; 29 : 980-1018 ou http://www.musclegenetable.fr.

Updated: June 2021