autosomal recessive distal spinal muscular atrophy 1
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.
MONDO:0001516
spinal muscular atrophy
is_a
MONDO:0015363
neuronopathy, distal hereditary motor, autosomal recessive
is_a
DSMA1
exact
HMN VI
related
IGHMBP2 spinal muscular atrophy
exact
SIANRF
exact
SMARD1
exact
Spinal Muscular Atrophy with Respiratory Distress
exact
autosomal recessive distal spinal muscular atrophy 1
exact
autosomal recessive distal spinal muscular atrophy type 1
exact
autosomal recessive spinal muscular atrophy with respiratory distress
exact
dHMN6
exact
dSMA1
exact
diaphragmatic spinal muscular atrophy
exact
distal hereditary motor neuropathy type 6
exact
distal-HMN type 6
exact
neuronopathy, distal hereditary motor, type VI
related
severe infantile axonal neuropathy with respiratory failure type 1
exact
spinal muscular atrophy caused by mutation in IGHMBP2
exact
spinal muscular atrophy with respiratory distress type 1
exact
spinal muscular atrophy, distal, autosomal recessive, 1
related
spinal muscular atrophy, distal, autosomal recessive, type 1
exact
SPCC737.07c