Neurogenic arthrogryposis multiplex congenita

Neurogenic arthrogryposis multiplex congenita (neurogenic AMC) is a rare congenital condition characterized by multiple joint contractures present at birth that result from impaired fetal movement due to neurogenic causes — meaning the underlying problem originates in the nervous system rather than in the muscles or joints themselves. The neurogenic origin may involve abnormalities of the anterior horn cells of the spinal cord, peripheral nerves, or the central nervous system. This distinguishes it from myopathic forms of arthrogryposis, where the primary defect lies in the muscle tissue. The condition affects the musculoskeletal and nervous systems. Key clinical features include non-progressive multiple joint contractures (typically involving both upper and lower limbs), muscle weakness and atrophy (particularly distally), decreased or absent deep tendon reflexes, and reduced fetal movements during pregnancy (often noted as decreased fetal kicks). Affected joints may be fixed in flexion or extension, and the severity can range from mild limitation to severe immobility. Some patients may also exhibit respiratory difficulties, feeding problems, and in severe cases, central nervous system involvement with intellectual disability, though cognitive function is often preserved. There is no cure for neurogenic arthrogryposis multiplex congenita. Treatment is supportive and multidisciplinary, focusing on maximizing joint mobility and function. This includes physical therapy, occupational therapy, serial casting, splinting, and orthopedic surgical interventions to release or correct contractures. Early and sustained rehabilitation is critical for improving functional outcomes. Respiratory support may be needed in severe cases. Genetic counseling is recommended, as the condition can arise from various genetic causes with different inheritance patterns.

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