Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 (DSMA1)

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Disease Ontology 12 DOID:0111064 OMIM 56 604320 MeSH 43 D009134 ICD10 32 G12.2 ICD10 via Orphanet 33 G12.2

UMLS via Orphanet 72 C1858517 Orphanet 58 ORPHA98920 MedGen 41 C1858517 SNOMED-CT via HPO 68 14760008 161857006 165232002 199612005 202281000 2120003 22033007 225595004 249808002 249942005 258211005 267258002 271823003 276369006 276610007 282020008 312230002 34168003 36440009 364538006 367494004 397932003 405946002 409622000 415690000 415691001 432788009 49550006 52613005 5262007 58596002 64228003 713514005 more UMLS 71 C1858517

Genetics Home Reference : ²⁵ Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is an inherited condition that causes muscle weakness and respiratory failure typically beginning in infancy. Early features of this condition are difficult and noisy breathing, especially when inhaling; a weak cry; problems feeding; and recurrent episodes of pneumonia. Typically between the ages of 6 weeks and 6 months, infants with this condition will experience a sudden inability to breathe due to paralysis of the muscle that separates the abdomen from the chest cavity (the diaphragm). Normally, the diaphragm contracts and moves downward during inhalation to allow the lungs to expand. With diaphragm paralysis, affected individuals require life-long support with a machine to help them breathe (mechanical ventilation). Rarely, children with SMARD1 develop signs or symptoms of the disorder later in childhood. Soon after respiratory failure occurs, individuals with SMARD1 develop muscle weakness in their distal muscles. These are the muscles farther from the center of the body, such as muscles in the hands and feet. The weakness soon spreads to all muscles; however, within 2 years, the muscle weakness typically stops getting worse. Some individuals may retain a low level of muscle function, while others lose all ability to move their muscles. Muscle weakness severely impairs motor development, such as sitting, standing, and walking. Some affected children develop an abnormal side-to-side and back-to-front curvature of the spine (scoliosis and kyphosis, often called kyphoscoliosis when they occur together). After approximately the first year of life, individuals with SMARD1 may lose their deep tendon reflexes, such as the reflex being tested when a doctor taps the knee with a hammer. Other features of SMARD1 can include reduced pain sensitivity, excessive sweating (hyperhidrosis), loss of bladder and bowel control, and an irregular heartbeat (arrhythmia).

MalaCards based summary : Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1, also known as smard1, is related to charcot-marie-tooth hereditary neuropathy and muscular atrophy, and has symptoms including constipation and inspiratory stridor. An important gene associated with Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 is IGHMBP2 (Immunoglobulin Mu DNA Binding Protein 2), and among its related pathways/superpathways is RNA transport. Affiliated tissues include Neural Tube, and related phenotypes are failure to thrive and hyperhidrosis

Disease Ontology : ¹² A spinal muscular atrophy characterized by autosomal recessive inheritance of severe respiratory distress resulting from diaphragmatic paralysis that predominantly involves the upper limbs and distal muscles that has material basis in homozygous or compound heterozygous mutation in the IGHMBP2 gene on chromosome 11q13.

UniProtKB/Swiss-Prot : ⁷³ Neuronopathy, distal hereditary motor, 6: A neuromuscular disorder. Distal hereditary motor neuronopathies constitute a heterogeneous group of neuromuscular disorders caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs.

Wikipedia : ⁷⁴ Distal spinal muscular atrophy type 1 (DSMA1), is a rare neuromuscular disorder involving death of motor... more...

More information from OMIM: 604320

Clinical features from OMIM:

604320

Search Clinical Trials , NIH Clinical Center for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1

Search GEO for disease gene expression data for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1.