Antenatal multiminicore disease with arthrogryposis multiplex congenita

Antenatal multiminicore disease with arthrogryposis multiplex congenita is an extremely rare and severe congenital neuromuscular disorder that presents before birth (antenatally). It is characterized by the combination of multiminicore myopathy — a structural muscle disease in which muscle biopsy reveals multiple small areas of sarcomeric disorganization (minicores) — and arthrogryposis multiplex congenita, a condition involving multiple joint contractures present at birth due to reduced fetal movement. This form represents the most severe end of the multiminicore disease spectrum. The disease primarily affects the skeletal muscular system, leading to profound muscle weakness and hypotonia (reduced muscle tone) evident at or before birth. Decreased fetal movements are often noted during pregnancy, and polyhydramnios (excess amniotic fluid) may be observed. At birth, affected infants typically present with severe generalized muscle weakness, respiratory insufficiency, feeding difficulties, and multiple fixed joint contractures affecting both upper and lower limbs. Facial weakness and ophthalmoplegia (impaired eye movements) may also be present. The respiratory compromise can be life-threatening and often requires ventilatory support. The condition has been associated with mutations in genes involved in skeletal muscle structure and function, including RYR1 (ryanodine receptor 1) and SELENON (formerly SEPN1). Inheritance is typically autosomal recessive. There is currently no curative treatment for this condition. Management is supportive and multidisciplinary, focusing on respiratory support, nutritional management, physical therapy to address contractures, and orthopedic interventions as needed. The prognosis is generally poor, with many affected infants experiencing significant morbidity due to respiratory failure in the neonatal period.

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