GTR Home > Conditions/Phenotypes > Myopathy, distal, 1

Disease characteristics

Excerpted from the GeneReview: Laing Distal Myopathy
Laing distal myopathy is characterized by early-onset weakness (usually before age 5 years) that initially involves the dorsiflexors of the ankles and great toes and then the finger extensors, especially those of the third and fourth fingers. Weakness of the neck flexors is seen in all affected individuals and mild facial weakness is often present. After distal weakness has been present for more than ten years, mild proximal weakness is observed. Life expectancy is normal.

Associated genes

  • Also known as: CMD1S, CMH1, MPD1, MYHCB, SPMD, SPMM, MYH7
    Summary: myosin, heavy chain 7, cardiac muscle, beta

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