/autosomal recessive distal spinal muscular atrophy 1

autosomal recessive distal spinal muscular atrophy 1

Rare Disease

MONDO:0011436

Also Known As

DSMA1IGHMBP2 spinal muscular atrophySIANRFSMARD1Spinal Muscular Atrophy with Respiratory Distressautosomal recessive distal spinal muscular atrophy 1autosomal recessive distal spinal muscular atrophy type 1autosomal recessive spinal muscular atrophy with respiratory distressdHMN6dSMA1diaphragmatic spinal muscular atrophydistal hereditary motor neuropathy type 6distal-HMN type 6severe infantile axonal neuropathy with respiratory failure type 1spinal muscular atrophy caused by mutation in IGHMBP2spinal muscular atrophy with respiratory distress type 1spinal muscular atrophy, distal, autosomal recessive, type 1HMN 6HMN VIHmn6neuronopathy, Severe infantile axonal, with respiratory failureneuronopathy, distal hereditary motor, type 6neuronopathy, distal hereditary motor, type VIsevere infantile axonal neuropathy with respiratory failurespinal muscular atrophy with respiratory distress 1spinal muscular atrophy, diaphragmaticspinal muscular atrophy, distal, autosomal recessive, 1

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.