can you have FSH MD and have a normal emg

my son has symptoms of fsh md - scapular winging, eyelids that don't close all the way when he sleeps, atrophy of the right pec muscle, weakness in the triceps and serratus anterior and complaints of tightness stiffness and fatigue the sports med DR's cant find any cause for this but he had a normal emg so would that absolutely rule out fsh md?

[Christopher R Newey, DO]

Thanks for using the forum. I am happy to address your questions, and my answer will be based on the information you provided here. Please make sure you recognize that this forum is for educational purposes only, and it does not substitute for a formal office visit with a doctor.

Without the ability to examine and obtain a history, I can not tell you what the exact cause of the symptoms is. However I will try to provide you with some useful information.

Facioscapulohumeral Dystrophy is a disorder that has a genetic basis (chromosome 4). To reliably establish the diagnosis, it takes a clinical examination, DNA analysis, serum CK levels, and if needed muscle biopsy. EMG typically will show myopathic changes (changes within the muscles). It is possible that the muscles sampled in the EMG were not the correct muscles. Was the EMG performed to specifically look for FSH dystrophy? If the clinical suspicion is high, it may be worthwhile to have genetic testing. Is your son followed by a pediatric neurologist? If not, I would recommend this.

Thank you for this opportunity to answer your questions, I hope you find the information I have provided useful, good luck.