The presentation is as follows: Lack of muscle, high arch, and hammer toes are indicators of genetic disease * Neurogenic muscle weakness * Atrophy (of lower and upper limbs) * Club foot * Arthrogryposis * Scoliosis * Platyspondyly * Pes cavus * Vocal cord paralysis
Congenital distal spinal muscular atrophy
Congenital muscular dystrophy
Spinal muscular atrophies
Distal hereditary motor neuronopathies
Spinal muscular atrophy
Jokela type spinal muscular atrophy
Spinal muscular atrophy with lower extremity predominance 1
Monomelic amyotrophy