Which clinical history findings are characteristic of autosomal-recessive limb-girdle muscular dystrophy 2M (LGMD2M)?

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

LGMD2M (LGMDR13 Fukutin; 9q31)

The disease is allelic with Fukuyama congenital muscular dystrophy and most mutations in fukutin result in a severe phenotype.

Rare cases of LGMD2M have been described due to a mutation in the fukutin gene. [31, 32, 33]

Patients usually present with hypotonia or delayed motor milestones before age 2 years. Progression is moderate, with proximal greater than distal weakness affecting the legs more than the arms, but walking is maintained through the first decade. Joint contractures and calf hypertrophy may be present.

Other features include mild facial weakness, tongue hypertrophy, and contractures.

Some of these children have worsening weakness during febrile illnesses, and like boys with Duchenne muscular dystrophy, their weakness improves with steroids.

Most children had normal intelligence but a few had low IQs. Structural brain abnormalities in in the posterior fossa or cortex may be noted.


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