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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.

127 clinical trials for this condition and its sub-types, 107 tagged with Spinal muscular atrophy itself.

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Where it sits in the disease tree

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Part of

↑ Anterior horn disorder (485) ↑ Hereditary motor neuron disease (169)

Sub-types of Spinal muscular atrophy

Proximal spinal muscular atrophy 14 trials · 42 incl. sub-types
6 sub-types
- Spinal muscular atrophy, type 1 17 trials
- Spinal muscular atrophy, type II 14 trials
- Spinal muscular atrophy, type III 13 trials
- Spinal muscular atrophy, type IV 2 trials
- Autosomal dominant childhood-onset proximal spinal muscular atrophy 0 trials Sub-types →
- Lower motor neuron syndrome with late-adult onset 0 trials
Autosomal recessive distal spinal muscular atrophy 1 2 trials
Bulbospinal muscular atrophy 1 trial
3 sub-types
- Pontocerebellar hypoplasia type 1 0 trials Sub-types →
- Pontocerebellar hypoplasia type 2 0 trials Sub-types →
- Spinal atrophy-ophthalmoplegia-pyramidal syndrome 0 trials
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
11 sub-types
- Distal hereditary motor neuropathy type 2 0 trials Sub-types →
- Distal hereditary motor neuropathy type 7 0 trials Sub-types →
- Hereditary spastic paraplegia 17 0 trials
- Myopathy, myofibrillar, 13, with rimmed vacuoles 0 trials
- Neuronopathy, distal hereditary motor, autosomal dominant 1 0 trials
- Neuronopathy, distal hereditary motor, autosomal dominant 10 0 trials
- Neuronopathy, distal hereditary motor, autosomal dominant 11 0 trials
- Neuronopathy, distal hereditary motor, autosomal dominant 15 0 trials
- Neuronopathy, distal hereditary motor, autosomal dominant 8 0 trials
- Neuronopathy, distal hereditary motor, type 5 0 trials Sub-types →
- Neuronopathy, distal hereditary motor, type 9 0 trials
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

Most studied deeper sub-types

Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures (0) Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures (0) Neuronopathy, distal hereditary motor, type 2A (0) Neuronopathy, distal hereditary motor, type 2B (0) Neuronopathy, distal hereditary motor, type 2C (0) Neuronopathy, distal hereditary motor, type 2D (0) Neuronopathy, distal hereditary motor, type 5A (0) Neuronopathy, distal hereditary motor, type 5B (0) Neuronopathy, distal hereditary motor, type 5C (0) Neuronopathy, distal hereditary motor, type 7A (0) Neuronopathy, distal hereditary motor, type 7B (0) Pontocerebellar hypoplasia type 1A (0) Pontocerebellar hypoplasia type 1B (0) Pontocerebellar hypoplasia, type 1C (0) Pontocerebellar hypoplasia type 2A (0) Pontocerebellar hypoplasia type 2B (0) Pontocerebellar hypoplasia type 2C (0) Pontocerebellar hypoplasia type 2D (0) Pontocerebellar hypoplasia, type 2F (0) Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant (0)

Including sub-types (127) Tagged with Spinal muscular atrophy (107)

Trials to join now! 49 Not yet recruiting 10 Not yet finished but already full! 33 Completed 33 Terminated 2