Spinal muscular atrophy with lower extremity predominance
Dernière mise à jour 18 Aug 2020
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Spinal muscular atrophy with lower extremity predominance (SMA-LED) is characterised by muscle weakness and wasting (atrophy) in the lower limbs, most severely affecting the thigh muscles (quadriceps). (In SMA-LED, the "D" stands for dominant, which refers to the inheritance pattern of this condition.) The loss of nerve cells that control muscle movement (motor neurons) leads to atrophy of the muscles in the lower limbs. Affected individuals often have a waddling or unsteady walk and walk on the balls of their feet. They may have difficulty rising from a seated position and climbing stairs. Some people with SMA-LED also have weakness in upper limb muscles.
Description
Spinal muscular atrophy with lower extremity predominance (SMA-LED) is characterised by muscle weakness and wasting (atrophy) in the lower limbs, most severely affecting the thigh muscles (quadriceps). (In SMA-LED, the "D" stands for dominant, which refers to the inheritance pattern of this condition.) The loss of nerve cells that control muscle movement (motor neurons) leads to atrophy of the muscles in the lower limbs. Affected individuals often have a waddling or unsteady walk and walk on the balls of their feet. They may have difficulty rising from a seated position and climbing stairs. Some people with SMA-LED also have weakness in upper limb muscles.
Joint deformities (contractures) in the hips, knees, feet, and ankles can occur in SMA-LED, and in severe cases are present from birth and can impair walking. Some individuals with this disorder have rigidity of joints (arthrogryposis) in their shoulders, elbows, and hands.
In most people with SMA-LED, the muscle problems are apparent in infancy or early childhood; however, about one-quarter of affected individuals do not develop muscle weakness until adulthood. The muscle weakness and related health problems typically do not worsen over time.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Other names
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
Kugelberg-Welander syndrome, autosomal dominant
Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy with contractures
SMA-LED
Spinal muscular atrophy, childhood, proximal, autosomal dominant
Spinal muscular atrophy, juvenile, proximal, autosomal dominant
Spinal muscular atrophy, lower extremity, autosomal dominant
Spinal muscular atrophy, lower extremity, dominant
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Lectures complémentaires et références
- Spinal muscular atrophy with lower extremity predominance; MedlinePlus, National Library of Medicine.
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