The stone women-Myositis ossificans Progressiva

Area of Science:

• Medical Genetics
• Rare Diseases
• Orthopedics

Background:

• Myositis ossificans progressiva (MOP) is an extremely rare genetic disorder, affecting approximately 1 in 2 million individuals globally.
• While familial cases suggest autosomal dominant inheritance, most MOP cases are sporadic.
• No specific ethnic, racial, or geographic predispositions are documented for MOP.

Observation:

• A 16-year-old female presented with a 4-year history of progressive restriction in bilateral elbow, shoulder, knee, and hip joint mobility.
• Physical examination revealed short great toes and flexion deformity of all joints, rendering the patient bedridden.
• The patient experienced acute pain for two weeks prior to evaluation.

Findings:

• The patient was diagnosed with myositis ossificans progressiva.
• Treatment involved a short course of steroids and bisphosphonates.
• Symptomatic improvement in pain was observed following treatment.

Implications:

• Myositis ossificans progressiva presents significant challenges due to its rarity and limited therapeutic options.
• Currently, no cure exists for MOP.
• Steroids and bisphosphonates offer a viable short-term strategy for managing acute pain in MOP patients.