intermediate spinal muscular atrophy

A childhood spinal muscular atrophy that is characterized by progressive muscular weakness and respiratory failure, develops in children between the ages of 6 and 12 months and drastically reduces length of life, and has_material_basis_in mutations in the SMN1

A childhood spinal muscular atrophy that is characterized by progressive muscular weakness and respiratory failure, develops in children between the ages of 6 and 12 months and drastically reduces length of life, and has_material_basis_in mutations in the SMN1 or SMN2 genes that are required for the survival of motor neurons.

Signs and symptoms

• Skeletal muscle atrophy
• Hand tremor
• Degeneration of anterior horn cells
• Tongue fasciculations
• Spinal muscular atrophy
• Muscle weakness
• Recurrent respiratory infections
• EMG abnormality

Also known as: MUSCULAR ATROPHY, SPINAL, INFANTILE CHRONIC FORM; MUSCULAR ATROPHY, SPINAL, INTERMEDIATE TYPE; SMA II; SMA2; spinal muscular atrophy 2