## 2 The Health360 Framework
### Use Case: Health360 Applied to Neuromuscular Diseases  
The Health360 framework is mainly used as an integrated tool for managing and analyzing data within the field of neuromuscular disorders. Actually, the end-users of this tool include four clinical partners located in Tuscany Region, Italy, which represent the core for research and clinical care in the related field in the area.  
Overall, neuromuscular diseases require careful study concerning the genotype-phenotype association, in order to understand the precise characteristics of each individual affected by such conditions, and to adapt a personalized therapy, maximizing its result [15]. Therefore, the need emerges to collect various kinds of data, including those from genetics, muscular diagnostics, physiotherapy, and cardiovascular exams, to support the clinician in drawing a complete framework about the health condition of the patient, in defining treatment plans and in monitoring the disease course. This scenario is completely integrated with the concept of precision medicine, where the aim is to look for a therapy with maximum efficacy, based on correlation analysis between clinical and genetic data within a patient.  
This is particularly important within the field of neuromuscular diseases, particularly those defined as \"rare\", where a specific syndrome is present just in a very small number of individuals. In this scenario, the typical approach, based on randomized cohorts to assess the efficacy of a given treatment (either a pharmacological one or not), is often inadequate, due to the low number of individuals composing the cohorts. Therefore, the concept of precision medicine in this domain is particularly appreciated, also thinking about the plethora of different rare neuromuscular diseases known to date, taken together accounting for thousands cases worldwide.  
The first step in this process is represented by the diagnostic phase, particularly critical as several symptoms are common, or slightly different, between conditions. Therefore, being able to distinguish similar features, which are slightly variable between pathologies, is particularly helpful to clinicians to draw an appropriate diagnosis, avoiding potentially critical issues in this phase, which could make the whole therapeutic process vain.  
Within the field, Health360 is mainly used to collect data from Becker and Duchenne muscular dystrophies but can potentially host data from other clinical conditions.  
More specifically, in the light of the modular concept for the platform above mentioned, several modules were developed, as indicated below:  
* PhysioTest: It allows for the administration of physiotherapy assessments through personalized user interfaces for specific tests, including Performance of Upper Limb (PUL), Six-Minute Walk Test (6 MWT), Motor Function Measure (MFM), and North Star Ambulatory Assessment (NSAA) [16].
* NeuroExam: It was developed to execute neurological examinations [17].
* GenoStore: It stores the patient's genotype to study and selects individuals with particular genetic variants.
* MRIndex: It integrated muscular Magnetic Resonance Imaging and, by applying a segmentation algorithm, it provides a score for the subcutaneous fat infiltration within the muscular tissue, as an indicator of the muscular involvement within the clinical condition [18].
* PhenoLink: It allows for navigation within Human Phenotype Ontology (HPO), a biomedical ontology allowing the user to define, in a coded manner, a patient's phenotype.
* InGene: It enables selecting different parameters, by filtering or highlighting personal attributes, clinical test results, and so forth. It applies such parameters to statistical analysis in selected patients, through multivariate techniques, to highlight clusters of individuals based on the genotype-phenotype correlations. It represents a useful tool in clinical research, supporting diagnostic and care plan personalization [19].