Case Report: Severe depression and suicidality in a young patient with RYR1-related congenital myopathy

Background RYR1-related congenital myopathies (RYR1-CMYO) are rare inherited neuromuscular disorders characterized by considerable clinical and histopathological heterogeneity. Although chronic physical disability may be associated with substantial psychological burden, psychiatric manifestations in patients diagnosed with RYR1-related disorders remain insufficiently characterized. Case presentation We report the case of an 18-year-old man with a longstanding RYR1-related congenital myopathy with an autosomal dominant family pattern, who was admitted for a severe depressive episode with active suicidal ideation and a suicide plan. The patient also met diagnostic criteria for obsessive-compulsive disorder and retrospectively reported psychotic symptoms of uncertain timing, duration, and diagnostic significance. No active psychotic symptoms were identified at the documented examination. The familial RYR1 p.Leu4579Arg missense variant had previously been identified in both the patient and his clinically affected mother, supporting segregation with the neuromuscular phenotype. However, patient-specific muscle histopathology was unavailable. A particularly salient psychosocial feature was marked resentment toward his mother, whom he perceived as responsible for transmitting the disorder, in the context of longstanding physical disability, reduced autonomy, and intrafamilial conflict. An individualized multimodal treatment approach combining pharmacotherapy, described family-oriented work, suicide-risk management, and multidisciplinary follow-up was associated with partial improvement in depressive symptoms and reduction of active suicidal ideation during follow-up. The contributions of individual interventions could not be separated. Conclusion This case illustrates the psychiatric and psychosocial burden of living with an inherited disabling neuromuscular disease in a young adult. Although a direct pathophysiological relationship between RYR1 dysfunction and major depressive disorder or an RYR1-specific psychiatric phenotype cannot be inferred, chronic disability, impaired autonomy, awareness of genetic transmission, and associated family dynamics may contribute to psychological distress. The case highlights the importance of systematic assessment of depression and suicide risk in patients with rare disabling neuromuscular disorders and supports the integration of psychiatric care, psychological support, genetic counseling, and family-oriented interventions within multidisciplinary management.