Defining Clinical Endpoints in Limb Girdle Muscular Dystrophy (LGMD)

Inclusion Criteria - Arm 1:

• Age between 4-65 at enrollment

• Clinically affected (defined as weakness on bedside evaluation in either a limb-girdle pattern, or in a distal extremity)

• A genetically or functionally confirmed mutation in ANO5, CAPN3, DYSF, DNAJB6 or SGCA-G.

• Willing and able to give informed consent and follow all study procedures and requirements

Inclusion Criteria - Arm 2:

• Age between 4-65 at enrollment

• Clinically affected (defined as weakness on bedside evaluation in either a limb-girdle pattern, or in a distal extremity)

• a genetically confirmed mutation in SGCA-G

• Willing and able to give informed consent and follow all study procedures and requirements

Exclusion Criteria - Arm 1:

• Any other illness that would interfere with the ability to undergo safe testing or would interfere with interpretation of the results in the opinion of the site investigator.

• History of a bleeding disorder, platelet count <50,000, current use of an anticoagulant.

• Positive pregnancy test at time any timepoint during the trial.

Exclusion Criteria - Arm 2:

• Any other illness that would interfere with the ability to undergo safe testing or would interfere with interpretation of the results in the opinion of the site investigator.

• History of a bleeding disorder, platelet count <50,000, current use of an anticoagulant

• Positive pregnancy test at time any timepoint during the trial.