Evaluation of Limb-Girdle Muscular Dystrophy

• The measurement of growth factors (TGF-B, IGF-II) and cytokines (IL18, IL1A, and IL1B) between the different types of LGMD and BMD. [ Time Frame: 12 months ] [ Designated as safety issue: No ]
  
• The difference in the growth factors (TGF-B, IGF-II) and cytokines (IL18, IL1A, and IL1B) pre-evaluation and post-evaluation. [ Time Frame: 12 months ] [ Designated as safety issue: No ]
  

• Evaluation of surrogate and clinically relevant outcome measures in LGMD. [ Time Frame: 24 months ] [ Designated as safety issue: No ]
  
• Quality of life questionnaires to correlate patient- perceived limitations in daily activities with the quantitative strength measurements and functional ability with timed testing. [ Time Frame: 24 months ] [ Designated as safety issue: No ]
  
• Evaluation of patient understanding in their diagnosis and genetic etiology of their diagnosis. [ Time Frame: 24 months ] [ Designated as safety issue: No ]
  

Specific Aims:

Aim 1: Evaluate integrity of the extracellular matrix in patients with LGMD by measuring serum growth factors and cytokines and compare these to a disease control (BMD) and normal volunteers.

Aim 2: Measure growth factors and cytokines following medical evaluation and compare them to the baseline levels.

Aim 3: Discovery Aim for future multicenter clinical trials in LGMD. Aim 3A: Abstract medical records with particular emphasis on age of disease onset, initial clinical symptoms, progression and location of the muscular weakness, treatments attempted, and other medical complications. A review of the diagnostic testing performed will also be conducted.

Aim 3B: Perform complete clinical evaluation including anthropometric measures, evaluation of joint limitations, timed functional testing, muscle strength, pulmonary function, and a cardiac assessment.

Aim 3C: Determine patient understanding of diagnosis of LGMD and genetic testing results. A questionnaire will be generated that addresses the patient's understanding of his/her diagnosis as well as their understanding of genetic concepts of autosomal recessive inheritance, genes, molecular testing and implications for themselves as well as their family.

Aim 3D: Quality of Life (QOL) questionnaires will be administered. These will be used to identify functional limitations by the patients and compare those limitations with the clinical evaluation.

Study Description

Only one visit will be necessary for this study. The study visit includes:

1. Review of the informed consent form
2. Blood collection Blood will be collected for the following: DNA extraction to confirm genotype if not already performed; Muscle Enzymes before and after physical evaluation; and Growth factors and cytokines: before and after physical evaluation.
3. Medical history review
4. Physical Examination
5. Questionnaires: Participants will complete 3 questionnaires: Diagnosis and genetic testing, ACTIVLIM, and INQoL
6. Clinical Evaluator assessment which includes: Manual Muscle Testing, Quantitative Muscle Testing, Pulmonary Function Testing, Anthropometric measurements, and Timed and Functional testing
7. Cardiac evaluation will include: Electrocardiogram and Echocardiogram

Control subjects will be required to come to the test site to complete the informed consent process, clinical evaluator assessment, and have blood drawn before and after the clinical evaluator assessment. No other examinations or procedures will be performed on the control participants.