Clinical Trial: Genetic and Physical Study of Childhood Nerve and Muscle Disorders

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational



Official Title: Clinical and Molecular Manifestations of Neuromuscular and Neurogenetic Disorders of Childhood

Brief Summary:

Background:

- Some nerve and muscle disorders that start early in life (before age 25), like some forms of muscular dystrophy, can run in families. However, the genetic causes of these disorders are not known. Also, doctors do not fully understand how symptoms of these disorders change over time. Researchers want to learn more about genetic nerve and muscle disorders that start in childhood by studying affected people and their family members, as well as healthy volunteers.

Objectives:

- To better understand nerve and muscle disorders that start early in life and run in families.

Eligibility:

  • Individuals at least 4 weeks old with childhood-onset muscular and nerve disorders, including those who have a later onset of a disorder that typically has childhood onset.
  • Affected and unaffected family members of the individuals with muscular and nerve disorders.
  • Healthy volunteers at least 4 weeks old with no nerve or muscle disorders.

Design:

  • Participants will be screened with a physical exam and medical history. Genetic information will be collected from blood, saliva, cheek swab, or skin samples. Urine samples may also be collected.
  • Healthy volunteers and unaffected family members will have imaging studies of the muscles. These studies will include magnetic resonance imaging (MRI) and ultrasound scans. Results will be compared with those from the affected participants.
  • All par