Natural History in CCFDN and IBM Syndromes
Natural History in CCFDN and IBM Syndromes
So far, only limited data is available regarding the natural course in Congenital Cataract
 Facial Dysmorphism Neuropathy Syndrome (CCFDN) and sporadic and hereditary inclusion body
 myopathies (IBM). Several criteria and outcome measures have led to contradicting results.
 The investigators want to retrospectively assess the natural course of the disease in CCFDN
 and IBM patients according to the data recorded during clinical routine visits.
We wanted to assess the natural course in Congenital Cataract Facial Dysmorphism Neuropathy
 Syndrome (CCFDN) and sporadic and hereditary inclusion body myopathies (IBM) over 10 years to
 gain new insights in both conditions.
Inclusion Criteria:

 -  Clinical and/or genetic diagnosis of Congenital Cataract Facial Dysmorphism Neuropathy
 Syndrome (CCFDN) and sporadic and hereditary inclusion body myopathies (IBM)

 Exclusion Criteria:

 -  Additional neuromuscular diseases