Dysferlinopathy (LGMD2B): a 23-year follow-up study of 10 patients homozygous for the same frameshifting dysferlin mutations

Neuromuscul Disord. 2001 Jan;11(1):20-6. doi: 10.1016/s0960-8966(00)00157-7.


The limb-girdle muscular dystrophies are a group of inherited neuromuscular disorders which are clinically and genetically heterogeneous. We have been able to carry out a follow-up study on 10 patients from a large Palestinian family with a confirmed mutation in the dysferlin gene. These patients have been followed for more than 23 years since the onset of the disease. They all had normal developmental milestones. The onset of the disease was usually in the second decade, more rarely in the third and fourth decades. The first symptoms were difficulty with running and climbing stairs. Patients showed a distinct type of gait due to the unique pattern of muscle involvement which was characterised by early involvement of the posterior muscle compartment of the thighs and legs (hamstrings, adductors, gastrocnemius and soleus). The shoulder and upper limb musculature became involved later, especially supra and infraspinatus and biceps. In the early stages of disease these patients may clinically show only proximal lower limb-girdle muscle weakness; however, the use of muscle imaging techniques were very important, always detecting in these patients also distal lower limb muscle involvement, so that the pattern of muscle involvement found in dysferlin deficiency may not strictly conform to the definition of limb-girdle muscular dystrophy. The pattern of muscular dystrophy is essentially uniform and has clearly distinct features (involving mainly the initial pattern of muscle involvement and the mode of gait) which differ significantly from the well reported clinical features associated with sarcoglycanopathy, calpainopathy and Miyoshi myopathy.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Disease Progression
  • Dysferlin
  • Female
  • Follow-Up Studies
  • Frameshift Mutation / genetics*
  • Gait Disorders, Neurologic / genetics
  • Gait Disorders, Neurologic / physiopathology
  • Homozygote
  • Humans
  • Male
  • Membrane Proteins*
  • Middle Aged
  • Movement Disorders / genetics
  • Movement Disorders / physiopathology
  • Muscle Proteins / genetics*
  • Muscle Weakness / genetics
  • Muscle Weakness / physiopathology
  • Muscular Dystrophies / genetics
  • Muscular Dystrophies / pathology*
  • Muscular Dystrophies / physiopathology*
  • Phenotype
  • Posture / physiology


  • DYSF protein, human
  • Dysferlin
  • Membrane Proteins
  • Muscle Proteins

Grant support