Phenotypes associated with the disease autosomal recessive distal spinal muscular atrophy 1 (OMIM:604320):
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 11/11. (PMID:11528396)
- Distal amyotrophy (HP:0003693): Muscular atrophy affecting muscles in the distal portions of the extremities. Evidence: TAS. (OMIM:604320)
- Camptodactyly of finger (HP:0100490): 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. Evidence: IEA. (OMIM:604320)
- Urinary incontinence (HP:0000020): Loss of the ability to control the urinary bladder leading to involuntary urination. Evidence: TAS. (OMIM:604320)
- Distal muscle weakness (HP:0002460): Reduced strength of the musculature of the distal extremities. Evidence: TAS. (OMIM:604320)
- Limb muscle weakness (HP:0003690): Reduced strength and weakness of the muscles of the arms and legs. Evidence: TAS. (OMIM:604320)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: IEA. (OMIM:604320)
- Axonal degeneration (HP:0040078). Evidence: IEA. (OMIM:604320)
- Hyperhidrosis (HP:0000975): Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather. Evidence: TAS. (OMIM:604320)
- Diaphragmatic paralysis (HP:0006597): The presence of a paralyzed diaphragm. Evidence: IEA. (OMIM:604320)
- Respiratory failure (HP:0002878): 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. Evidence: TAS. (OMIM:604320)
- Spinal muscular atrophy (HP:0007269): Muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem. Evidence: PCS. (PMID:11528396)
- Ventilator dependence with inability to wean (HP:0005946). Evidence: IEA. (OMIM:604320)
- Constipation (HP:0002019): Infrequent or difficult evacuation of feces. Evidence: IEA. (OMIM:604320)
- Denervation of the diaphragm (HP:0009109): Interruption of the innervation of the diaphragm. Evidence: IEA. (OMIM:604320)
- Premature birth (HP:0001622): The birth of a baby of less than 37 weeks of gestational age. Evidence: IEA. (OMIM:604320)
- Hyporeflexia (HP:0001265): Reduction of neurologic reflexes such as the knee-jerk reaction. Evidence: IEA. (OMIM:604320)
- Inspiratory stridor (HP:0005348): Inspiratory stridor is a high pitched sound upon inspiration that is generally related to laryngeal abnormalities. Evidence: IEA. (OMIM:604320)
- EMG: neuropathic changes (HP:0003445): The presence of characteristic findings of denervation on electromyography (fibrillations, positive sharp waves, and giant motor unit potentials). Evidence: TAS. (OMIM:604320)
- Talipes equinovarus (HP:0001762): 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. Evidence: PCS. Frequency: 1/11. (PMID:11528396)
- Degeneration of anterior horn cells (HP:0002398). Evidence: IEA. (OMIM:604320)
- Diaphragmatic eventration (HP:0009110): 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. Evidence: PCS. Frequency: 11/11. (PMID:11528396)
- Small for gestational age (HP:0001518): Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age. Evidence: IEA. (OMIM:604320)
- Diaphragmatic weakness (HP:0009113): A decrease in the strength of the diaphragm. Evidence: IEA. (OMIM:604320)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:11528396)
- Decreased fetal movement (HP:0001558): An abnormal reduction in quantity or strength of fetal movements. Evidence: IEA. (OMIM:604320)
- Neonatal hypotonia (HP:0001319): Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period. Evidence: PCS. Frequency: 11/11. (PMID:11528396)
- Intrauterine growth retardation (HP:0001511): An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. Evidence: IEA. (OMIM:604320)
- Decreased nerve conduction velocity (HP:0000762): A reduction in the speed at which electrical signals propagate along the axon of a neuron. Evidence: IEA. (OMIM:604320)
- Tachypnea (HP:0002789): Very rapid breathing. Evidence: IEA. (OMIM:604320)
- Weak cry (HP:0001612). Evidence: IEA. (OMIM:604320)
- Peripheral axonal degeneration (HP:0000764): Progressive deterioration of peripheral axons. Evidence: TAS. (OMIM:604320)