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References OMIM Gene GeneReviews HGMD HGNC
last update : 01-12-2017
Symbol LGMD1D
Location 7q36.3
HGNC id 6576
Name limb-girdle muscular dystrophy 1D
Corresponding gene DNAJB6
Other symbol(s) LGMD1E
Main clinical features
  • characterized by progressive proximal leg weakness, with/without proximal arm weakness, absent ankle deep-tendon reflexes and elevated creatine-kinase values
  • onset of muscle weakness in the pelvic girdle muscles between the fourth and sixth decade, later involvement of the shoulder girdle, and marked walking difficulties in the eighth decade (PMID: 21376592))
  • at the early stages of the disease fatty degeneration in T1-weighed MRI sequences were observed in the soleus, adductor magnus, semimembranosus and biceps femoris muscles followed by medial gastrocnemius, adductor longus and later by vasti muscles of the quadriceps (PMID: 23865856))
  • Genetic determination autosomal dominant
    Function/system disorder neuromuscular
    Type disease