Undiagnosed Neuromuscular Diseases Program
Despite technological advantages, an important number of patients only has a syndromic diagnosis of their neuromuscular disease. In general, these cases are very rare or they have an atypical / incomplete clinical presentation, different from the usual disease phenotype.
The fact of not having a diagnosis of certainty ("a surname") is a handicap for this group of patients to access to future treatments, especially gene therapy. Another disadvantage, compared to the patients with a diagnosis of certainty, is that they can not share their experiences online in forums and hope for future clinical trials.
To meet the need of these patients, we have initiated a program in Neuromuscular Diseases without diagnosis - PENMSD - (for its acronym in Spanish). People (children and adults) can apply to be visited in our hospital. The patient will be examined by a multidisciplinary medical team with expertise in rare neuromuscular diseases. The team studie the results of clinical and laboratory tests for a diagnosis. The PENMSD offers patients hope for a diagnosis and possible treatment strategies.
Through this program, our group has characterized clinically and / or genetically the first cases in Spain of the new form of type 1F autosomal muscular dystrophy dominant (LGMD-1F), familial Amyotrophic Lateral Sclerosis by errors in the FUS / TLS gene, neurogastrointestinal mitochondrial encephalopathy (MNGIE), type 2 myotonic dystrophy (PROMM), Congenital Myotonia abnormalities in chloride channels, hereditary Spastic Paraparesis, familial multiple lipomatosis (Madelung disease) and McArdle disease.