Genetic and Physical Study of Childhood Nerve and Muscle Disorders

Inclusion Criteria

• •1. Aged 4 weeks and older
• •2. Documentation of a personal history of a childhood-onset, hereditary/familial, neurological disorder or later onset of a disease that more commonly has childhood onset. Acceptable documentation includes evaluation through any or all of the following evaluations done prior to enrollment.
• •1. Medical history, including family history information
• •2. Physical examination
• •3. Muscle, nerve, or skin biopsy
• •4. Magnetic resonance imaging (MRI)
• •5. Electromyography (EMG)
• •6. Nerve conduction study (NCS)
• •7. Electroencephalogram (EEG)
• •8. Muscle ultrasound
• •9. Genetic, metabolic, or other laboratory testing such as increased serum Creatine Kinase (CK) and abnormal serum lactate/pyruvate ratio.
• •1. Aged 4 weeks and older
• •2. Documentation of a defined childhood onset neuromuscular and neurogenetic disorders through phase 1 testing.
• •1. Unaffected family members must be related by blood to a proband enrolled in the study. Biological relations may include first (parent or sibling), second (grandparents, aunts, uncles, half siblings) and third degree relatives (cousins).
• •2. Age 4 weeks and older.
• •1. Must be unaffected by a neurological condition.
• •2. Willing and able to comply with all protocol requirements and procedures, including MRI without sedation and without contrast.
• •3. Able to give informed assent and parent(s)/legal guardian to give informed consent in writing signed by the subject and/or parent(s)/legal guardian.