Rare: < 1/106. Distal muscular dystrophy. Autosomal recessive transmission of a mutation of:

• DYSF gene (2p13.2): MMD1 [MIM 254 130] more common in Libyan and Israeli Jewish populations, and Italian and Spanish populations
• gene to be determined in 10p: MMD2 [MIM 613 318], very rare, asymmetric presentation
• ANO5 gene (11p14.13): MMD3 [MIM 613 319]

Onset between 15 and 30 years of age (median 19 years). Usually symmetrical muscular atrophy of the calf muscles (soleus and gastrocnemius), leading to difficulties for locomotion or climbing stairs. Exercise-induced myalgias. As the disease progresses, patients develop proximal weakness of the legs and arms to varying degrees. Very high CPK level.

Anesthetic implications: 

as in any muscular dystrophy, it is recommended to avoid halogenated agents and succinylcholine, and to carry out a TIVA based on propofol.

References : 

Updated: June 2021