Related Experiment Video
Updated: Aug 9, 2026
Direct Mouse Trauma/Burn Model of Heterotopic Ossification
Published on: August 6, 2015
[Progressive myositis ossificans. Stone man]
J E Fonseca1, T Evangelista, L Barroso
1Unidade de Reumatologia e Doenças Osseas Metabólicas, Serviço de Medicina IV, Serviços de Neurologia e Serviço de Ortopedia, Hospital de Santa Maria, Lisboa.
Abstract:
Myositis ossificans progressiva (MOP) is a rare hereditary connective tissue disease, genetically inherited as an autossomal dominant trait with complete penetrance but variable expression. The onset usually takes place during childhood and progressive involvement of the spinal cord and proximal extremities leads to immobilization and articular dysfunction. We present a case of a 29-year-old woman with the typical features of MOP and review the pathogenesis, clinical manifestations and treatment options of this rare disease.
Insights
Myositis ossificans progressiva (MOP) is a rare genetic disorder causing bone formation in muscles and connective tissues. This case study highlights typical MOP features and reviews its pathogenesis, symptoms, and treatments.
Area of Science:
- Connective tissue disorders
- Genetic diseases
- Musculoskeletal conditions
Background:
- Myositis ossificans progressiva (MOP) is a rare autosomal dominant hereditary connective tissue disease.
- Characterized by progressive ossification of muscles and connective tissues, leading to immobilization.
- Typically presents in childhood with variable clinical expression.
Observation:
- A case of a 29-year-old woman with classic MOP features is presented.
- The patient exhibited typical signs and symptoms of the disease.
- This presentation underscores the diagnostic criteria for MOP.
Findings:
- MOP involves progressive ossification impacting the spinal cord and proximal extremities.
- Leads to significant functional limitations, including immobilization and articular dysfunction.
- Variable expression is a key characteristic, despite complete genetic penetrance.
Implications:
- Understanding MOP pathogenesis is crucial for developing targeted therapies.
- Early diagnosis and management can potentially mitigate disease progression.
- Further research into treatment options is warranted for this rare condition.
