The participant experiences progressive weakness in his lower limbs. Early in his disease course, he was suspected to have spinal muscular atrophy and Charcot-Marie-Tooth disease type 2. Genetic testing later ruled out these diagnoses. An electromyogram (EMG) showed evidence of nerve damage (axonal neuropathy). In his more active years, the … read more
The participant began to experience tremors at 4 months and concerns were raised for global developmental delay when she failed to meet developmental milestones. Early in life, she had episodic fevers, frequently requiring hospitalization, and staring spells thought to be seizures (absence seizures). After evaluation by neurology, she had an … read more
When the participant was almost two years old, she became ill and experienced hallucinations (altered mental status), problems with coordination (ataxia), and crossed eyes (strabismus). She continued to have these episodes for about a year. When she was three years old, she was hospitalized during an episode and tests revealed … read more
