{"Name":"Autosomal recessive distal spinal muscular atrophy 1","DiseaseID__c":"GARD:0008592","id":8592,"encodedName":"autosomal-recessive-distal-spinal-muscular-atrophy-1","IsDeleted":false,"Disease_Name_Full__c":"Autosomal recessive distal spinal muscular atrophy 1","Xref_IDs__c":"711483003; C1858517; C536880; DOID:0111064; MEDGEN:388083; MONDO:0011436; OMIM:604320; ORPHA:98920","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0011436","Disease_Description__c":"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.","GARD_Name__c":"Autosomal recessive distal spinal muscular atrophy 1","GARD_Synonym__c":"autosomal recessive distal spinal muscular atrophy type 1; autosomal recessive spinal muscular atrophy with respiratory distress; dhmn6; diaphragmatic spinal muscular atrophy; distal hereditary motor neuronopathy type vi; distal hereditary motor neuropathy type 6; distal spinal muscular atrophy type 1; distal-hmn type 6; dsma1; hmn vi; ighmbp2 spinal muscular atrophy; neuronopathy, distal hereditary motor, harding type vi; neuronopathy, severe infantile axonal, with respiratory failure; neuropathy, distal hereditary motor, autosomal recessive 1; severe infantile axonal neuropathy with respiratory failure; severe infantile axonal neuropathy with respiratory failure type 1; sianrf; smard1; spinal muscular atrophy caused by mutation in ighmbp2; spinal muscular atrophy with respiratory distress; spinal muscular atrophy with respiratory distress 1; spinal muscular atrophy with respiratory distress type 1; spinal muscular atrophy, diaphragmatic; spinal muscular atrophy, distal, autosomal recessive, type 1","Curated_Disease_Description_Source__c":"MONDO:0011436","Curated_Disease_Description__c":"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).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:98920","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011436","ORPHANET_ID__c":"ORPHA:98920","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Atrofia muscular espinal con dificultad respiratoria tipo 1","Spanish_Description_Source__c":"ORPHA:98920","Spanish_Description__c":"Es una enfermedad de neurona motora genética poco frecuente caracterizada por insuficiencia/fallo respiratorio grave asociado a eventración y parálisis diafragmática, así como debilidad y atrofia muscular simétrica progresiva, de distal a proximal (principalmente en las extremidades inferiores). Los afectados suelen tener una historia de retraso del crecimiento intrauterino, bajo peso al nacer, llanto débil, succión débil y fallo de medro y presentan estridor inspiratorio, episodios recurrentes de disnea o apnea, cianosis y ausencia de reflejos tendinosos profundos. Con frecuencia se asocian otras características como cifosis / escoliosis, malformaciones del pie y contracturas articulares.","Spanish_Disease_Name__c":"atrofia muscular espinal con dificultad respiratoria tipo 1","Spanish_GARD_Synonym__c":"atrofia muscular espinal autosómica recesiva con dificultad respiratoria; atrofia muscular espinal con distrés respiratorio tipo 1; atrofia muscular espinal diafragmática; dhmn6; dsma1; neuropatía axonal grave del lactante con insuficiencia respiratoria tipo 1; neuropatía motora distal hereditaria tipo 6","Category_Linearization__c":"ORPHA:98006","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"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).","Curated_Disease_Description_Source__c":"MONDO:0011436","GARD_Synonym__c":"autosomal recessive distal spinal muscular atrophy type 1; autosomal recessive spinal muscular atrophy with respiratory distress; dhmn6; diaphragmatic spinal muscular atrophy; distal hereditary motor neuronopathy type vi; distal hereditary motor neuropathy type 6; distal spinal muscular atrophy type 1; distal-hmn type 6; dsma1; hmn vi; ighmbp2 spinal muscular atrophy; neuronopathy, distal hereditary motor, harding type vi; neuronopathy, severe infantile axonal, with respiratory failure; neuropathy, distal hereditary motor, autosomal recessive 1; severe infantile axonal neuropathy with respiratory failure; severe infantile axonal neuropathy with respiratory failure type 1; sianrf; smard1; spinal muscular atrophy caused by mutation in ighmbp2; spinal muscular atrophy with respiratory distress; spinal muscular atrophy with respiratory distress 1; spinal muscular atrophy with respiratory distress type 1; spinal muscular atrophy, diaphragmatic; spinal muscular atrophy, distal, autosomal recessive, type 1","Name":"Autosomal recessive distal spinal muscular atrophy 1","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Muscular Dystrophy Canada","Website__c":"https://muscle.ca/"},{"Account_Name__c":"Cure SMA","Website__c":"https://www.curesma.org/"},{"Account_Name__c":"Muscular Dystrophy Association","Website__c":"https://www.mda.org"},{"Account_Name__c":"Spinal Muscular Atrophy Association of Australia Inc.","Website__c":"https://smaaustralia.org.au/"},{"Account_Name__c":"SmashSMARD","Website__c":"https://www.smashsmard.org/"},{"Account_Name__c":"Cure SMA Canada","Website__c":"https://curesma.ca/"},{"Account_Name__c":"Gwendolyn Strong Foundation","Website__c":"https://nevergiveup.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Peripheral Neuropathy","Tag_Category__c":"Account","curated_tag_name":"Peripheral neuropathy"},{"Tag_Name__c":"Neuromuscular medicine","Tag_Category__c":"Specialist","curated_tag_name":"Neuromuscular medicine"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:98920"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:98920"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1858517"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0008592","Source__c":"RareSource"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111064","Source__c":"MONDO:0011436","Xref__c":"DOID:0111064"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=388083","Source__c":"C1858517","Xref__c":"MEDGEN:388083"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=711483003","Source__c":"C1858517; MONDO:0011436","Xref__c":"711483003"},{"URL__c":"https://www.orpha.net/en/disease/detail/98920","Source__c":"C1858517; MONDO:0011436; ORPHA:98920","Xref__c":"ORPHA:98920"},{"URL__c":"https://www.omim.org/entry/604320","Source__c":"C1858517; MONDO:0011436; ORPHA:98920","Xref__c":"OMIM:604320"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536880","Source__c":"MONDO:0011436","Xref__c":"C536880"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1858517","Source__c":"C1858517","Xref__c":"C1858517"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011436","Source__c":"GARD:0008592","Xref__c":"MONDO:0011436"},{"URL__c":"https://medlineplus.gov/genetics/condition/spinal-muscular-atrophy-with-respiratory-distress-type-1","Source__c":"GARD:0008592","Xref__c":"https://medlineplus.gov/genetics/condition/spinal-muscular-atrophy-with-respiratory-distress-type-1"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"IGHMBP2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/ighmbp2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:604320","Feature__r":{"HPO_Description__c":"Muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007269","HPO_Synonym__c":"Spinal muscle degeneration; Spinal muscle wasting","HPO_Name__c":"Spinal muscular atrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:604320","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001319","HPO_Synonym__c":"Hypotonia, in neonatal onset; Hypotonia, neonatal; Low muscle tone, in neonatal onset","HPO_Name__c":"Neonatal hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:604320","Feature__r":{"HPO_Description__c":"The presence of characteristic findings of denervation on electromyography (fibrillations, positive sharp waves, and giant motor unit potentials).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003445","HPO_Synonym__c":"EMG: neurogenic abnormalities; EMG: neurogenic changes; EMG: neurogenic findings","HPO_Name__c":"EMG: neuropathic changes","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Procedure_EMG"}},{"Provided_By__c":"OMIM:604320","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A congenital failure of muscular development of part or all of one or both hemidiaphragms, resulting in superior displacement of abdominal viscera and altered lung development.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009110","HPO_Name__c":"Diaphragmatic eventration","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:604320","Feature__r":{"HPO_Description__c":"An abnormal reduction in quantity or strength of fetal movements.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001558","HPO_Synonym__c":"Decreased fetal activity; Decreased fetal movements; Decreased movement in utero; Dminished fetal movement; Fetal hypokinesia; Less than 10 fetal movements in 12 hours; Reduced fetal movement; Reduced fetal movements","HPO_Name__c":"Decreased fetal movement","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:604320","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040078","HPO_Name__c":"Axonal degeneration","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:604320","Feature__r":{"HPO_Description__c":"Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000975","HPO_Synonym__c":"Diaphoresis; Excessive sweating; Increased sweating; Profuse sweating; Sweating; Sweating profusely; Sweating, increased","HPO_Name__c":"Hyperhidrosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:604320","Feature__r":{"HPO_Description__c":"Muscular atrophy affecting muscles in the distal portions of the extremities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003693","HPO_Synonym__c":"Amyotrophy of distal limb muscles; Distal amyotrophy, especially of the hands and feet; Distal limb muscle atrophy; Distal muscle atrophy; Distal muscle atrophy, upper and lower limbs; Distal muscle degeneration; Distal muscle wasting; Distal muscular atrophy; Muscle atrophy, distal","HPO_Name__c":"Distal amyotrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:604320","Feature__r":{"HPO_Description__c":"Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001518","HPO_Synonym__c":"Birth weight less than 10th percentile; Low birth weight; Small for gestational age","HPO_Name__c":"Small for gestational age","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:604320","Feature__r":{"HPO_Description__c":"Interruption of the innervation of the diaphragm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009109","HPO_Name__c":"Denervation of the diaphragm","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:604320","Feature__r":{"HPO_Description__c":"A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002878","HPO_Synonym__c":"Respiratory failure","HPO_Name__c":"Respiratory failure","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:604320","Feature__r":{"HPO_Description__c":"Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001508","HPO_Synonym__c":"Faltering weight; FTT; Postnatal failure to thrive; Weight faltering","HPO_Name__c":"Failure to thrive","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:604320","Feature__r":{"HPO_Description__c":"The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100490","HPO_Synonym__c":"Camptodactyly of hands; Camptodactyly of proximal interphalangeal joint; Contractures of the proximal interphalangeal joints of the fingers; Flexion contractures of proximal interphalangeal joints; Permanent flexion of the finger; Proximal interphalangeal finger joint contractures","HPO_Name__c":"Camptodactyly of finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:604320","Feature__r":{"HPO_Description__c":"The presence of a paralyzed diaphragm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006597","HPO_Synonym__c":"Diaphragmatic paralysis; Paralyzed diaphragm","HPO_Name__c":"Diaphragmatic paralysis","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:604320","Feature__r":{"HPO_Description__c":"Infrequent or difficult evacuation of feces.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002019","HPO_Synonym__c":"Constipation; Costiveness; Dyschezia","HPO_Name__c":"Constipation","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:604320","Feature__r":{"HPO_Description__c":"Very rapid breathing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002789","HPO_Synonym__c":"Increased respiratory rate or depth of breathing; Polypnea","HPO_Name__c":"Tachypnea","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:604320","Feature__r":{"HPO_Description__c":"An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001511","HPO_Synonym__c":"Fetal growth restriction; FGR; In utero growth retardation; Intrauterine growth failure; Intrauterine growth restriction; Intrauterine growth retardation, IUGR; Intrauterine retardation; IUGR; Prenatal growth deficiency; Prenatal growth failure; Prenatal growth retardation; Prenatal onset growth retardation; Prenatal-onset growth retardation; Small for gestational age infant","HPO_Name__c":"Intrauterine growth retardation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:604320","Feature__r":{"HPO_Description__c":"Progressive deterioration of peripheral axons.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000764","HPO_Name__c":"Peripheral axonal degeneration","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:604320","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002398","HPO_Synonym__c":"Anterior horn cell loss; Degeneration of alpha-motor neurons in anterior horn cells of the spinal cord; Degeneration of spinal cord anterior horn cells; Loss of spinal cord anterior horn cells; Progressive loss of anterior horn cells; Spinal cord anterior horn cell degeneration","HPO_Name__c":"Degeneration of anterior horn cells","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:604320","Feature__r":{"HPO_Description__c":"Inspiratory stridor is a high pitched sound upon inspiration that is generally related to laryngeal abnormalities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005348","HPO_Name__c":"Inspiratory stridor","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:604320","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001762","HPO_Synonym__c":"Club feet; Club foot; Clubbing of feet; Clubfeet; Clubfoot; Equinovarus; Foot, talipes equinovarus; Pes equinovarus; Pes equinus","HPO_Name__c":"Talipes equinovarus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:604320","Feature__r":{"HPO_Description__c":"Reduction of neurologic reflexes such as the knee-jerk reaction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001265","HPO_Synonym__c":"Decreased reflex response; Decreased reflexes","HPO_Name__c":"Hyporeflexia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:604320","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001612","HPO_Name__c":"Weak cry","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:604320","Feature__r":{"HPO_Description__c":"The birth of a baby of less than 37 weeks of gestational age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001622","HPO_Synonym__c":"Premature birth; Premature delivery; Premature delivery of affected infants; Preterm birth; Preterm delivery; Shortened gestation time","HPO_Name__c":"Premature birth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:604320","Feature__r":{"HPO_Description__c":"A decrease in the strength of the diaphragm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009113","HPO_Synonym__c":"Diaphragmatic paraparesis; Weak diaphragm","HPO_Name__c":"Diaphragmatic weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:604320","Feature__r":{"HPO_Description__c":"A reduction in the speed at which electrical signals propagate along the axon of a neuron.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000762","HPO_Synonym__c":"Decreased NCV; Decreased nerve conduction velocities; Delayed nerve conduction velocity; Reduced nerve conduction velocities; Slow nerve conduction velocity; Slowed nerve conduction velocities","HPO_Name__c":"Decreased nerve conduction velocity","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_NCV"}},{"Provided_By__c":"OMIM:604320","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005946","HPO_Name__c":"Ventilator dependence with inability to wean","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:604320","Feature__r":{"HPO_Description__c":"Reduced strength and weakness of the muscles of the arms and legs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003690","HPO_Synonym__c":"Limb muscle weakness; Limb weakness","HPO_Name__c":"Limb muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:604320","Feature__r":{"HPO_Description__c":"Reduced strength of the musculature of the distal extremities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002460","HPO_Synonym__c":"Distal limb muscle weakness; Distal limb weakness; Distal muscular weakness; Distal paresis; Muscle weakness, distal; Muscle weakness, distal limbs, due to neuronopathy; Weakness of distal muscles; Weakness of outermost muscles","HPO_Name__c":"Distal muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:604320","Feature__r":{"HPO_Description__c":"Loss of the ability to control the urinary bladder leading to involuntary urination.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000020","HPO_Synonym__c":"Bladder incontinence; Loss of bladder control","HPO_Name__c":"Urinary incontinence","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"Account":["Peripheral Neuropathy"]},"synonyms":["autosomal recessive distal spinal muscular atrophy type 1"," autosomal recessive spinal muscular atrophy with respiratory distress"," dhmn6"," diaphragmatic spinal muscular atrophy"," distal hereditary motor neuronopathy type vi"," distal hereditary motor neuropathy type 6"," distal spinal muscular atrophy type 1"," distal-hmn type 6"," dsma1"," hmn vi"," ighmbp2 spinal muscular atrophy"," neuronopathy, distal hereditary motor, harding type vi"," neuronopathy, severe infantile axonal, with respiratory failure"," neuropathy, distal hereditary motor, autosomal recessive 1"," severe infantile axonal neuropathy with respiratory failure"," severe infantile axonal neuropathy with respiratory failure type 1"," sianrf"," smard1"," spinal muscular atrophy caused by mutation in ighmbp2"," spinal muscular atrophy with respiratory distress"," spinal muscular atrophy with respiratory distress 1"," spinal muscular atrophy with respiratory distress type 1"," spinal muscular atrophy, diaphragmatic"," spinal muscular atrophy, distal, autosomal recessive, type 1"]}