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GENATLAS PHENOTYPE
last update : 23-04-2009
Symbol MPD2
Location 5q31.2
HGNC id 32384
Name myopathy, distal 2
Other name(s) vocal cord and paryngeal wakness with distal mopathy
Corresponding gene MATR3
Other symbol(s) VCPMD, VCPDM
Main clinical features
  • characterized by late adult onset in ankle or finger extensors, with vocal cord and pharyngeal weakness
  • first symptoms developed at the age of 3557 years and the most frequent initial manifestation was ankle dorsiflexion weakness and foot drop (PMID: 19344878))
  • slowly progressive course with involvement of the feet and hands and eventually an effect on shoulder and pelvic muscles; vocal cord or swallowing dysfunction ; EMG and nerve conduction studies indicated a myopathy, and the levels of serum creatine phosphokinase (CPK) were usually only mildly or moderately elevated
  • Genetic determination autosomal dominant
    Function/system disorder neuromuscular
    Type disease
    Remark(s)