Inclusion Body Myositis, Sporadic, Inclusion Body Myopathy, Autosomal-recessive, Inclusion Body Myopathy, Autosomal-dominant, Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Conditions
Brief summary
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.
Detailed description
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.
Interventions
OTHERNatural History
Assessment of natural history in IBM and CCFDN
Sponsors
Ludwig-Maximilians - University of Munich
Study design
Observational model
COHORT
Time perspective
RETROSPECTIVE
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Manual Muscle Strength assessed by Medical Research Council (MRC) | 6-months intervals | Retrospective |
Countries
Germany
Outcome results
None listed