_ERN-NMD DESEASES_
Versione in italiano
WHAT IS
This is a chronic degenerative and inflammatory myopathy affecting patient motricity. Patients refer progressive muscle atrophy and weakness involving hands, quadriceps and foot dorsiflexion. Typical deficits include difficulty in opening bottles and canes, rising from floor or chairs, and frequent stubbing due to foot drop. The disease may involve neck muscle causing head drop. Dysphagia may occur in approximately 66% of patients in advanced stages of the disease and can be severe in some cases.
HOW DO WE RECOGNIZE IT
Diagnosis depends on specialized clinical evaluation by neuromuscular expert, confirmed by myopathic electromyography, raised CK levels in blood, and typical pattern at muscle biopsy. Pathology reveal myopathic and inflammatory features, typical rimmed vacuoles and protein deposits at light microscopy and filaments at electron microscopy evaluation.
HOW GETS SICK
This is in general a sporadic disorder that usually occur after the 5th decade of life. The causative mechanism is still not known.
HOW DO WE TREAT IT
There is no curative treatment for IBM, and patients usually do not respond to anti-inflammatory or immuno-modulatory therapies.
WHAT DO WE DO IN OSPEDALE SAN RAFFAELE
The diagnosis is performed by a team of physicians specialized in muscle disorders based on clinical evaluation, electromyography and muscle biopsy.
REFERRING DOCTORS for this deseaseat Ospedale San Raffaele