Clinical Outcome Study for Dysferlinopathy (Jain COS)

A diagnosis of Limb Girdle Muscular Dystrophy type 2B (LGMD2B), Miyoshi myopathy, or any other clinical diagnosis associated with dysferlinopathies

Inclusion Criteria:

- Confirmed diagnosis of dysferlinopathy proven by a) two (predicted) pathogenic dysferlin mutations, b) one (predicted) pathogenic dysferlin mutation and absent dysferlin protein on muscle immunoblot, or c) one (predicted) pathogenic dysferlin mutation and dysferlin protein level ≤20% of normal level determined by blood monocyte testing. Mutations will be checked for pathogenicity via the UMD bioinformatics tools.

NOTE: Contact Esther Hwang at the Jain Foundation for help with diagnosis at +1 425 882 1492

• Ambulant with or without aids; or full-time wheelchair user, i.e. non-ambulant; with the ratio 2:1 between recruited ambulant and recruited non-ambulant patients.
• All ages ≥ 10 years of age.
• Ability to perform assessments (there will be different assessments for ambulant and non-ambulant patients).
• Ability to attend scheduled investigations.
• Informed consent to participate in the clinical outcome study.

NOTE: Funds are available to cover necessary hotel stays and travel costs to the study centres for the participant and a helper (if needed).

Exclusion Criteria:

• Known current or planned medical or other interventions that might interfere with the possibility to undertake the planned tests.
• Other concomitant pathology that in the view of the investigator would jeopardise the ability to take part in the protocol.