Which clinical history findings are characteristic of autosomal-recessive limb-girdle muscular dystrophy 2J (LGMD2J)?

Updated: Aug 15, 2019
  • Author: Monica Saini, MD, MBBS, MRCP(UK); Chief Editor: Nicholas Lorenzo, MD, MHA, CPE  more...
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Answer

LGMD2J (LGMDR10 Titin; 2q24)

LGMD2J onset is at approximately 10–30 years, although one patient presented with weakness in infancy. [26] Proximal weakness progresses slowly, and tibialis anterior weakness may develop.

Wheelchair confinement usually occurs within 20 years, but some patients are ambulant past 60 years.

Occasional asymmetric presentation may be noted. Face is spared.

This disease is allelic, with the much more common presentation of tibial muscular dystrophy (TMD), sometimes called Finnish distal myopathy, the most common muscle disease in Finland. Some family members may have LGMD2J while others may have a TMD phenotype.

TMD presentation is usually in the fourth decade, with tibialis anterior weakness, which may be asymmetric. After many years, proximal weakness may develop. Less common manifestations include onset with proximal weakness, upper limb involvement, generalized weakness in childhood, persistent focal/asymmetric weakness, and mild bulbar/facial weakness.

The disease is also allelic with dilated cardiomyopathy 1G, autosomal recessive congenital myopathy with lethal cardiomyopathy, and hereditary myopathy with early respiratory involvement.


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