A 44-year-old woman with a history of a father diagnosed with FMD.
He consulted due to weakness of both upper extremities of one year of evolution, although he had noticed mild facial and scapular weakness in his adolescence.
At the time of consultation, the motor examination revealed facial weakness greater than the left ; weakness of the shoulder girdle and upper limbs, more noticeable to the left, and hyperlordosis.
Lower limbs weakness was not present.
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In the study, plasma CPK was normal and EMG showed a myopic pattern.
In this patient, a muscle biopsy of the deltoid was performed and the result was consistent with myositis.
The patient was treated with corticosteroids for several months until she was reevaluated by us.
The genetic study showed a reduction to 7 Z4Z4 lesions.
After 16 years of follow-up, the patient was independent in activities of daily living, although she had to abandon her work activity as a household counselor for a year.
The patient had three children and one of them, patient 7 of the series, who notes the first typical symptoms of the disease at 29 years.
