5 articles
Autosomal dominant childhood-onset proximal spinal muscular atrophy
Autosomal dominant childhood-onset proximal spinal muscular atrophy (SMALED, ORPHA:363447, OMIM 158600) is a rare genetic motor neuron disease with childhood-onset, proximal lower limb weakness, usually static or mildly progressive, caused mainly by DYNC1H1 or BICD2 mutations.
Kennedy disease
Kennedy disease, or spinal and bulbar muscular atrophy (SBMA), is an X-linked recessive adult-onset motor neuron disorder caused by CAG repeat expansion in the androgen receptor (AR) gene, causing male limb and bulbar weakness, gynecomastia, and slow progression.
Scapuloperoneal spinal muscular atrophy
Scapuloperoneal spinal muscular atrophy (SPSMA, neurogenic scapuloperoneal amyotrophy, New England type) is a rare autosomal dominant TRPV4-related motor neuron disease causing scapular and peroneal muscle atrophy, laryngeal palsy, and distal weakness.
Spinal muscular atrophy
Spinal muscular atrophy, historically called Werdnig-Hoffmann or Kugelberg-Welander disease, is a hereditary disease in which loss of spinal motor neurons causes progressive muscle weakness, treatable with drugs approved since 2016.
Spinal muscular atrophy with respiratory distress type 1
Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a rare genetic motor neuron disease that causes diaphragmatic paralysis and muscle weakness, typically in infants aged 6 weeks to 6 months.