_ERN-NMD DESEASES_
Versione in italiano
WHAT IS?
Multifocal motor neuropathy (MMN) is a rare disease that affects the nerves, preventing them to carry the electrical pulses to the muscles. It is an autoimmune disease, in which the aberrant activation of our own immune system against the sheath that surrounds the nerves causes the damage. It is an acquired disease, and no genetic predisposing factor is known
HOW DO WE RECOGNIZE IT
The onset is usually in adult age. The main symptom is weakness, which typically starts in the upper limbs, asymmetrically. Usually, bulbar muscles (those needed for swallowing and articulating words) are not involved. The disease course is slowly progressive or stepwise. During the visit, the neurologist might find decreased or absent tendon reflexes in the involved districts. Electromyography is important for the diagnosis and shows typical findings. Blood test for pathological antibodies can be useful for the diagnosis. Lumbar puncture may help in the diagnosis.
HOW DO WE TREAT IT
Intravenous immune globulines (IVIg) are the first line treatment, with therapeutical success reported in 80% of cases. However, their effect is limited in time and the treatment is usually repeated every 3 or 4 weeks. Subcutaneous immune globulines (SCIg) proved effective as well. Immune suppressive drugs, like rituximab and cyclophosphamide, are useful alternative for resistant forms. An early diagnosis and treatment reduce permanent disability.
WHAT DO WE DO IN OSPEDALE SAN RAFFAELE
Through a detailed neurological and neurophysiological evaluation, we can get a precise diagnosis and establish the appropriate treatment.
REFERRING DOCTORS for this deseaseat Ospedale San Raffaele
