A 24-year-old woman with no relevant personal or family history of morbid obesity.
He consulted for one year of evolution of progressive difficulty of gait due to weakness and right foot pain.
The motor examination at that time highlighted the presence of bilateral facial weakness, bilateral winged scapulae, mild and symmetrical weakness of biceps and pectoralis, weakness of both hips pandriflexion major weakness
There is a predominance of foot dorsiflexors, greater on the right.
He also had mild scoliosis and hyperlordosis.
No other neurological signs.
The plasma CPK value was slightly elevated (395 IU/L) and electromyography reported a myopic pattern.
The genetic study confirmed the diagnosis of DMFEH, with a reduction to 8 episodes in the D4Z4 region.
After 12 years of evolution, functionality is progressively compromised until reaching a semi-autovalence state, requiring even help for progression.
During this time she has worked as secretary and had a daughter with no evidence of the disease so far, which has not been evaluated by us.
