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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 participants with nerve and muscle disorders will have multiple tests, including the following:
Imaging studies of the muscles, including ultrasound and MRI scans.
Imaging studies of the bones, such as x-rays and DEXA scans.
Heart and lung function tests.
Eye exams.
Nerve and muscle electrical activity tests and biopsies.
Video and photo image collection of affected muscles.
Speech, language, and swallowing evaluation.
Lumbar puncture to collect spinal fluid for study.
Tests of movement, attention, thinking, and coordination.
Participants with nerve and muscle disorders will return to the Clinical Center every year. They will repeat the tests and studies at these visits.

Outcome Measures

Primary Outcomes (2)

Diagnose and characterize patients with neuromuscular and neurogenetic disorders with congenital or pediatric onset and study the natural history and underlying disease mechanism.
Ongoing
In the characterized patient population identify and develop effective outcome measures for use in future clinical trials, including applicable motor scales, quality of life scales, biomarkers from blood and urine, imaging studies, and pulmonary...
Ongoing

Study Arms (4)

Affected probands

Affected probands over age 4 weeks and onwards with known or suspected inherited neurological disorders of childhood onset

Healthy volunteers

Healthy volunteers will be recruited for the imaging procedures in order to establish baseline and age-range matched data on the healthy, maturing muscle, spinal cord volume and dynamic breathing

Single patient on Idebenone

Single patient on IND expanded access of Idebenone

Unaffected family members

Families of affected probands with known or suspected inherited neurological disorders of childhood onset

Eligibility Criteria

Age1 Day - 100 Years

Sexall

Healthy VolunteersNo

Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)

Sampling MethodNon-Probability Sample

Study Population

Affected probands with the following categories of childhood onset inherited neurological disorders will be enrolled:-peripheral neuropathies; -muscular dystrophies and myopathies; -congenital muscular dystrophies and congenital myopathies; -disorders of the neuromuscular junction; -motor neuron disorders; -neuromotor or movement disorders; -disorders of brain development; -neurometabolic disorders; -disorders that have a phenotype suggestive of neurogenetic or neuromuscular disease but which have not yet been genetically confirmed. Families of affected probands, with known or suspected inherited neurological disorders of childhood onset will be enrolled. Healthy volunteers will enrolled for one-time imaging procedures. A single patient with compound heterozygous FDX2 mutations will be enrolled under an emergency IND for use of Idebenone for slowing progression of subacute blindness.

You may not qualify if:

MeSH Terms

Conditions

Muscular DystrophiesSpastic Paraplegia, Hereditary

Condition Hierarchy (Ancestors)

Muscular Disorders, AtrophicMuscular DiseasesMusculoskeletal DiseasesNeuromuscular DiseasesNervous System DiseasesGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesHereditary Sensory and Motor NeuropathyNervous System MalformationsHeredodegenerative Disorders, Nervous SystemNeurodegenerative DiseasesPolyneuropathies

Genetic and Physical Study of Childhood Nerve and Muscle Disorders

Brief Summary

Registry Overview

Trial Relationships

Study Timeline

Study Start

First Submitted

First Posted

Conditions

Keywords

Outcome Measures

Primary Outcomes (2)

Study Arms (4)

Affected probands

Healthy volunteers

Single patient on Idebenone

Unaffected family members

Eligibility Criteria

You may not qualify if:

Sponsors & Collaborators

Study Sites (1)

Related Links

MeSH Terms

Conditions

Condition Hierarchy (Ancestors)

Study Officials

Enrollment

Study Design

Study Record Dates

Source record

Locations

Genetic and Physical Study of Childhood Nerve and Muscle Disorders

Brief Summary

Registry Overview

Trial Relationships

Related Scientific Literature

Study Timeline

Study Start

First Submitted

First Posted

Conditions

Keywords

Outcome Measures

Primary Outcomes (2)

Study Arms (4)

Affected probands

Healthy volunteers

Single patient on Idebenone

Unaffected family members

Eligibility Criteria

You may not qualify if:

Sponsors & Collaborators

Study Sites (1)

Related Links

MeSH Terms

Conditions

Condition Hierarchy (Ancestors)

Study Officials

Enrollment

Study Design

Study Record Dates

Source record

Locations