Supervisor: TILL, Ágnes
Co-supervisor: Dr. MAGRATH, Heléna
Infant muscular hypotonia is one of the more frequent referrals we come across at our Developmental Neurology Specialty Clinic. Telling apart central from peripheral hypotonia by meticulous anamnesis and thorough physical exam is usually the easy part. When it comes to the precise diagnosis, though, conventional blood tests, imaging and electrophysiological exams commonly fail and a molecular genetic test is warranted.
Therapeutic interventions are available for a handful of rare diseases which make early diagnosis ever so important.
Apart from learning to process clinical data of our patients diagnosed with muscular hypotonia, the students’ would get a hands-on experience of working in paediatric neurology as well as in molecular genetic diagnostics.