Autosomal dominant congenital benign spinal muscular atrophy

Autosomal dominant congenital benign spinal muscular atrophy (also known as benign congenital SMA or nonprogressive spinal muscular atrophy) is a rare genetic neuromuscular disorder characterized by muscle weakness and atrophy resulting from degeneration of the anterior horn cells (lower motor neurons) of the spinal cord. Unlike the more common forms of spinal muscular atrophy, this condition follows an autosomal dominant inheritance pattern and has a relatively benign, nonprogressive or very slowly progressive clinical course. The disease typically presents at birth or in early infancy with predominantly proximal muscle weakness affecting the lower limbs more than the upper limbs. Affected individuals may show delayed motor milestones, difficulty walking, and muscle wasting, particularly in the thigh and hip girdle muscles. Deep tendon reflexes may be reduced or absent. Despite the muscle weakness, most patients retain the ability to walk independently, and the condition tends to remain stable or improve slightly over time. The musculoskeletal system is primarily affected, and some patients may develop mild joint contractures or skeletal deformities such as pes cavus. There is currently no specific curative treatment for this condition. Management is supportive and may include physical therapy to maintain muscle strength and joint mobility, orthopedic interventions for skeletal complications, and regular monitoring by a multidisciplinary team including neurologists and rehabilitation specialists. The prognosis is generally favorable compared to other forms of spinal muscular atrophy, with a normal or near-normal life expectancy.

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