Spinal muscular amyotrophy of lower limb predominance - SMALED1: case report

Case presentation: Male patient, 1 year-old, born and resident in Maranhão. Mother reported reduced fetal movement, after birth some dysmorphisms were identified such as deformity the lower limbs, characterized by arthrogryposis, bilateral congenital clubfoot, dislocation of hip fracture right femur perceived on fifth day life. During development, generalized hypotonia significant motor delay noticed, predominantly affecting limbs. The evaluation blue sclera, hyperelasticity mainly upper batrachian posture, osteotendinous plantar cutaneous reflexes not obtained, without apparent sensory cranial nerve changes. A complementary workup was performed with collection a panel for neuromuscular diseases evidence mutation DYNC1H1 gene, indicative Predominant Lower Limb Spinal Muscular Amyotrophy (SMALED1) autosomal dominant inheritance.