Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition Spinal muscular atrophy with respiratory distress type 1 is a rare genetic motor neuron disease characterized by severe respiratory distress/respiratory failure in association with diaphragmatic eventration and palsy, as well as progressive, symmetrical, distal-to-proximal muscle weakness and atrophy (in lower limbs especially). Patients typically have a history of intrauterine growth retardation, low birth weight, feeble cry, weak suck and failure to thrive and present with inspiratory stridor, recurrent episodes of dyspnea or apnea, cyanosis and absent deep tendon reflexes. Kyphosis/scoliosis, foot deformities and joint contractures are frequently associated features. Disease data Classification Disease Synonyms Autosomal recessive distal spinal muscular atrophy type 1 Autosomal recessive distal spinal muscular atrophy type 1 Autosomalny recesywny dystalny rdzeniowy zanik mięśni typu 1 Autosomalny recesywny rdzeniowy zanik mięśni z niewydolnością oddechową dHMN6 dSMA1 Dystalna dziedziczna neuropatia ruchowa typu 6 Dystalna-HMN typu 6 Rdzeniowy zanik mięśni przepony SIANRF SMARD1 Autosomal recessive spinal muscular atrophy with respiratory distress Diaphragmatic spinal muscular atrophy Distal hereditary motor neuropathy type 6 Distal-HMN type 6 SIANRF SMARD1 Severe infantile axonal neuropathy with respiratory failure type 1 dHMN6 dSMA1 ORPHA code 98920 OMIM code 604320 ICD10 code G12.2 ICD11 code - *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl