Cure My Disease

Don't miss your cure!

 Log in / Sign up

Spinal muscular atrophy

MONDO:0001516

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.

126 clinical trials for this condition and its sub-types.

Follow this condition — get notified about new trials

Sub-types

Spinal muscular atrophy, type 1 (16) Proximal spinal muscular atrophy (12) Spinal muscular atrophy, type II (12) Spinal muscular atrophy, type III (12) Spinal muscular atrophy, type IV (2) Autosomal recessive distal spinal muscular atrophy 1 (1) Bulbospinal muscular atrophy (1) Adult-onset proximal spinal muscular atrophy, autosomal dominant (0) Autosomal dominant childhood-onset proximal spinal muscular atrophy (0) Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures (0) Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures (0) Autosomal recessive distal spinal muscular atrophy 2 (0) Distal hereditary motor neuropathy type 2 (0) Distal hereditary motor neuropathy type 7 (0) Hereditary spastic paraplegia 17 (0) Infantile-onset X-linked spinal muscular atrophy (0) Lower motor neuron syndrome with late-adult onset (0) Myopathy, myofibrillar, 13, with rimmed vacuoles (0) Neuronopathy, distal hereditary motor, autosomal dominant (0) Neuronopathy, distal hereditary motor, autosomal dominant 1 (0)

Broader categories

Disease (618) Nervous system disorder (217) Hereditary disease (172) Neurodegenerative disease (155) Neuromuscular disease (98) Central nervous system disorder (97) Motor neuron disorder (59) Spinal cord disorder (38) Human disease (14) Inherited neurodegenerative disorder (10)
Trials to join now! 53 Not yet recruiting 12 Not yet finished but already full! 26 Completed 33 Terminated 2
Sort by