[MIM 606 072, 600 332, 601 253]

Very rare, described only in only a few families. Autosomal dominant transmission, rarely recessive, sometimes sporadic.

From a genetic point of view, two types have been identified:

-        Type 1 [MIM 600 332]: mutation of a gene in 1q41.

-        Type 2 [MIM 606 072]: mutation of the CAV3 gene (3p25.3) coding for caveolin 3. Disease formerly classified as LGMD1C limb girdle  muscular dystrophy. Other mutations of this gene can lead to familial hypertrophic cardiomyopathy, congenital long QT syndrome type 9, distal myopathy (Tateyama).

Benign muscular disease belonging to the myotonic syndromes (clinical presentation) or the caveolinopathies (biology).

It is characterized by muscle irritability which produces:

-        percussion-induced muscle mounding: local contracture of a muscle (“bunching up” of the muscle - 'myxedema') following its percussion

-        visible rippling of a muscle or group of muscles following mechanical stimulation (percussion or extension). These movements are electrically silent on the EMG, which proves that they are due to caused by a dysfunction of the contractile unit of muscle

-        Percussion-Induced Contractions:  a sudden and prolonged muscle contraction induced by percussion e.g. while testing a deep tendon reflex.

Patients complain of painful muscular stiffness after a period of rest. Onset usually during adolescence. In cases with an earlier onset: frequent falls, movement limitations, unusual gait (walking on toes) which improves with exercise, calf hypertrophy, high CPK levels.

Other mutations of caveolin 3 are responsible for the Limb-Girdle muscular dystrophy 1C (LGMD 1C) or for an isolated elevation of CPK level.

Association with myasthenia gravis has been observed in some cases with late-onset.

Anesthetic implications:

unknown; differential diagnosis of an isolated increase in CPK level. No reported cases of malignant hyperthermia but one case of positive response to the halothane contracture test. Avoid succinylcholine.

References : 

-         Torbergsen T. 
Rippling muscle disease : a review. 
Muscle Nerve 2002; S11: S103-7.

-         Schara U, Vorgerd M, Popovic N, Schoser BGH, Ricker K, Mortier M. 
Rippling muscle disease in childhood. 
J Child Neurol 2002; 17: 483-90.

-        Sundblom J, Melberg A, Rücker F, Smits A, Islander G. 
A family with discordance between malignant hyperthermia susceptibility and rippling muscle disease. 
J Anesth 2013; 27: 128-31.

Updated: January 2023