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Up to: Anterior horn disorder · Hereditary motor neuron disease

Spinal muscular atrophy

A motor neuron disease that affect the muscles, and characterized by muscle weakness and atrophy resulting from progressive degeneration and irreversible loss of the anterior horn cells in the spinal cord (i.e., lower motor neurons) and the brain stem nuclei. The severity of the condition; the associated signs and symptoms; and the age at which symptoms develop varies by subtype. In general, people with spinal muscular atrophy (SMA) experience progressive weakness and atrophy of muscles involved in mobility, the ability to sit unassisted, and head control. Breathing and swallowing may also be affected in severe cases. SMA is generally caused by changes (mutations) in the SMN1 gene and is inherited in an autosomal recessive manner. Extra copies of the SMN2 gene modify the severity of SMA. Rare autosomal dominant (caused by mutations in DYNC1H1, BICD2, or VAPB genes) and X-linked (caused by mutations in UBA1) forms of SMA exist. Treatment is based on the signs and symptoms present in each person.

107 trials tagged with this condition →

Proximal spinal muscular atrophy 14 trials · 42 incl. sub-types Sub-types →
Autosomal recessive distal spinal muscular atrophy 1 2 trials
Bulbospinal muscular atrophy 1 trial Sub-types →
X-linked distal spinal muscular atrophy type 3 0 trials
Adult-onset proximal spinal muscular atrophy, autosomal dominant 0 trials
Autosomal recessive distal spinal muscular atrophy 2 0 trials
Infantile-onset X-linked spinal muscular atrophy 0 trials
Neuronopathy, distal hereditary motor, autosomal dominant 0 trials Sub-types →
Neuronopathy, distal hereditary motor, autosomal recessive 3 0 trials
Neuronopathy, distal hereditary motor, autosomal recessive 4 0 trials
Neuronopathy, distal hereditary motor, autosomal recessive 5 0 trials
Scapuloperoneal spinal muscular atrophy, autosomal dominant 0 trials
Scapuloperoneal spinal muscular atrophy, autosomal recessive 0 trials
Spinal muscular atrophy type 0 0 trials
Spinal muscular atrophy with respiratory distress type 2 0 trials
Spinal muscular atrophy, Ryukyuan type 0 trials
Spinal muscular atrophy, facioscapulohumeral type 0 trials
Spinal muscular atrophy, segmental 0 trials
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome 0 trials