Background: Mitochondrial myopathies are rare neuromuscular diseases characterized by heterogeneous symptoms and severity. They affect multiple organs, including the brain, peripheral nervous system, muscles, kidneys, and liver. Objective: To illustrate how the application of the International Classification of Functioning, Disability, and Health (ICF) can help in managing a patient with mitochondrial myopathy in a rehabilitation setting. Methods: We present the case of a 26-year-old male diagnosed with a neuromuscular disease at age 12, exhibiting bilateral eyelid ptosis, dysphonia, dysphagia, and motor disorders. The patient underwent a thorough physical evaluation and various scales. The ICF model was employed to document and quantify deficits using a standardized template and numerical qualifiers. Results: Priority treatment areas included reeducation of postural and gait patterns, improving aerobic capacity through physical therapy, and managing pain via myofascial infiltration. Post-treatment, significant improvements were observed, although persistent challenges in participation domains, such as mobility in urban environments and employment, remained. Conclusions: This case study highlights the utility of the ICF framework in structuring rehabilitation plans, setting clear objectives, and evaluating outcomes for patients with rare diseases like mitochondrial myopathy. The ICF facilitates standardized assessment and comparison across different pathologies, promoting an integrative biopsychosocial model in rehabilitation.
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