Study of Resting and Exercising Body Functioning in Freeman-Sheldon Syndrome and Related Conditions

Summary

The hypotheses of the present study of Freeman-Sheldon syndrome (FSS) and related conditions are: (1) that exercise capacity is lower in FSS patients versus normal controls, and the lower exercise capacity is due to changes in the muscles' normal structure and an inability of sufficient quantity of the energy molecule to bind to muscle; (2) this muscle problem reduces amount of air that can get in the lung and amount of oxygen carried in the blood, which then has the effect of increasing heart and respiration rates, blood pressure, and deep body temperature, and produces muscle rigidity; (3) the events noted above, when they occur during cardiac stress testing, are related to a problem similar to malignant hyperthermia (MH) reported in some muscle disorders without use of drugs known to cause MH. MH (a life-threatening metabolic reaction that classically is triggered when susceptible persons receive certain drugs used in anaesthesia.

Conditions

• Arthrogryposis
• Craniofacial Abnormalities

Interventions

OTHER

Lactate, Glucose, and Adenosine Triphosphate Blood Levels

Completed during the clinical examination and exercise test by the researchers, lactate, glucose, and free and total adenosine triphosphate blood levels are determined at rest and during exercise.

PROCEDURE

Physiological Stress Test

During exercise, heart and lung function are monitored for changes caused by exercise, which increases the body's need for oxygen and puts extra demands on the heart. In this study, testing is done using a cycle ergometer and conducted according to the standardised exponential exercise protocol (STEEP).

OTHER

Functional Enquiry Form

Evaluated before clinical examination, it is a checklist of medical problems.

OTHER

Strength, Joint ROM, Girth and Length Measurements

Completed during the clinical examination by the researchers, it is a structured approach to evaluation of muscles, joints, arms, thighs, and legs.

OTHER

Study Physical Examination

Completed during the clinical examination by the researchers, it is a structured approach to a full physical examination (minus breasts, genitalia, or rectum).

OTHER

Observational Gait Analysis

Completed during the clinical examination by researchers, it is a structured approach to evaluation of a person's walking.

OTHER

Mental Health Interview

Completed during the clinical examination by the researchers, it is a general evaluation of mental health status.

Sponsors & Collaborators

• Freeman-Sheldon Research Group, Inc.

  lead OTHER

Eligibility

Sex

ALL

Healthy Volunteers

Yes

Timeline & Regulatory

Start

2014-03-31

Primary Completion

2022-06-30

Completion

2022-06-30

Countries

• United States

Study Locations