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Neuromuscular Diseases: what makes us different

Although the vast majority of neuromuscular diseases are genetic, children present complex clinical pictures with symptoms that are sometimes difficult to diagnose. Diagnosis is therefore a complex process that needs to be confirmed through proper interpretation of the biomedical, neurophysiological and genetic test results.

Our team of paediatric neurologists is specialised in the study of electromyography specifically tailored to NMDs in childhood, which very few centres in Spain can offer. Patient diagnosis is based on the constant collaboration between the Diagnostic Imaging, Anatomical Pathology, Laboratory and Genetics departments and the Paediatric Institute for Rare Diseases (IPER).

Children’s Hospital Certificates of excellence and research networks

The Spanish Ministry of Health has granted us with CSUR accreditation (Reference Centres, Services and Units) in Rare Neuromuscular Diseases. We are also part of the European network for Rare Neuromuscular Diseases. We share information with other research centres and all our patients with congenital myasthenia are on the national registry of neuromuscular diseases. Furthermore, all our patients with spinal muscular atrophy (SMA) are involved in the study of the progression of the disease.

Comprehensive treatment of neuromuscular disease

We have a comprehensive treatment Unit for Neuromuscular Disease (NCTU). Patients suffering from these diseases need extensive specialist clinical and psychosocial support. For this aim we frequently work closely with other departments and units, such as the Rehabilitation, Gastroenterology, Orthopaedics, Neonatology, ICU, Pulmonology and Cardiology departments.

Specialised in paediatric neuromuscular diseases

We are the only centre in Spain dedicated exclusively to these diseases. We monitor our patients by evaluating them through specific functional scales, which we use in more than 50% of cases. This allows us to learn more about these diseases in order to identify possible biomarker and therapeutic targets. Thanks to our highly-specialist team, we have launched a programme to prolong walking time in patients with Duchenne muscular dystrophy.

Coordinated work for an accurate diagnosis

Between 30-40% of patients with NMD are currently waiting for a genetic diagnosis. A quarter of the visits to our Unit come from outside Catalonia for the purpose of confirming the disease’s diagnosis.