AANEM Connect

a 45 y.o. woman with a past medical history significant for hypothyroidism presented for evaluation of episodic muscle weakness. Patient reported 3 episodes of severe weakness of her legs. She describes this as feeling her legs like jello. Her 1st episode was in 2017 and lasted for 6 months. It usually starts in the legs then progresses all over. All her symptoms resolved and she was fine until 2019 when the same exact thing happened. All her symptoms resolved again after 3 days per her report. About a month ago, the same thing started again . She has difficulty getting upstairs. She has difficulty walking and is currently using a walker. She denies any weakness in the arms at the current time.

She had a muscle biopsy. It was read as showing myopathic changes including lipid accumulation consistent with lipid storage myopathy (That is all). She also had an EMG on 02/27/2019 that was read as diffuse myopathy with fibrillation potential.

On Exam: Normal exam except for hypertrophy of her calves. 

Her son is autistic and while he was having some medical treatment, he, his sister and mom (patient) had whole exome sequencing. All had mutation in the TMEM43 gene, heterozygous for arrhythmogenic right vent dysplasia-5 and Emery-Dreifus muscular dystrophy-7. 

EMG yesterday: Myotonia most prominant at TA, M Gastroch and thoracic paraspinals with other areas of denervation and myopathic units. Myotonic discharges were breif and fading. 

I sent the comprehensive NM panel to Invitae yesterday which has EDMD

The fact that it comes in spells (not exclusively in the winter), she is completely normal and able to exercise in between is buzzling to me. She has never had any physical restriction.. She denies any physical restriction in her children, or weakness. 

What do you think? We are in Greater Philladelphia area. She was seen before at U Penn. The initial EMG and muscle biopsy were done there.