Phenotypes associated with the disease Infantile-onset X-linked spinal muscular atrophy (ORPHA:1145):
- Areflexia (HP:0001284): Absence of neurologic reflexes such as the knee-jerk reaction. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1145)
- Poor suck (HP:0002033): An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1145)
- Degeneration of anterior horn cells (HP:0002398). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1145)
- Skeletal muscle atrophy (HP:0003202): The presence of skeletal muscular atrophy (which is also known as amyotrophy). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1145)
- 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. Frequency: Very frequent (HP:0040281). (ORPHA:1145)
- Abnormal muscle fiber morphology (HP:0004303): Any abnormality of the skeletal muscle cell. Muscle fibers are subdivided into two types. Type I fibers are fatigue-resistant and rich in oxidative enzymes (they stain light with the myosin ATPase reaction), and type II fibers are fast-contracting, fatigue-prone, and rich in glycolytic enzymes (these fibers stain darkly). Normal muscle tissue has a random distribution of type I and type II fibers. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1145)
- Abnormal anterior horn cell morphology (HP:0006802): Any anomaly of the anterior horn cell. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1145)
- High palate (HP:0000218): Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1145)
- Short ribs (HP:0000773): Reduced rib length. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1145)
- Cupped ribs (HP:0000887): Wide, concave rib end. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1145)
- Interphalangeal joint contracture of finger (HP:0001220): Chronic loss of joint motion in an interphalangeal joint of a finger due to structural changes in non-bony tissue. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1145)
- Myopathic facies (HP:0002058): A facial appearance characteristic of myopathic conditions. The face appears expressionless with sunken cheeks, bilateral ptosis, and inability to elevate the corners of the mouth, due to muscle weakness. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1145)
- Respiratory insufficiency (HP:0002093). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1145)
- Respiratory distress (HP:0002098): Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1145)
- Anarthria (HP:0002425): A defect in the motor ability that enables speech. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1145)
- Arthrogryposis multiplex congenita (HP:0002804): Multiple congenital contractures in different body areas. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1145)
- Elbow flexion contracture (HP:0002987): An elbow contracture that limits the ability of the elbow joint to be extended (straightened), meaning that the elbow is fixed in an flexed (bent) position. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1145)
- Hip contracture (HP:0003273): Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of the hip joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1145)
- Proximal muscle weakness (HP:0003701): A lack of strength of the proximal muscles. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1145)
- Knee flexion contracture (HP:0006380): A type of knee joint contracture in which the knee is in a fixed bent (flexed) configuration such that it cannot be straightened actively or passively. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1145)
- Ankle flexion contracture (HP:0006466). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1145)
- Spinal muscular atrophy (HP:0007269): Muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1145)
- Floppy infant (HP:0008947): Floppiness/hypotonia is defined as reduced resistance to passive movement of joints. Physical examination of floppy/hypotonic infants shows head lag, lack of shoulder and elbow muscle contraction on traction response, inability to tighten the shoulder girdle muscles (or slipping through) when held under the axillae, scarf sign (when the arm is pulled to the opposite side, the arm wraps around the neck with the elbow crossing midline), hyperdorsiflexion of the feet, easy apposition of the thumb against the forearm, feet touching the cheek with ease and without discomfort, frog leg position, and inverted U sign on ventral suspension (head, arms, and legs hanging down without elbow or knee flexion and the trunk rounded in a dome shape). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1145)
- Inflammatory myopathy (HP:0009071): Chronic muscle inflammation accompanied by muscle weakness. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1145)
- Bone fracture (HP:0020110): A partial or complete breakage of the continuity of a bone. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1145)
- Cryptorchidism (HP:0000028): Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1145)
- Generalized hypotonia (HP:0001290): Generalized muscular hypotonia (abnormally low muscle tone). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1145)
- Tongue fasciculations (HP:0001308): Fasciculations or fibrillation affecting the tongue muscle. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1145)
- Potter facies (HP:0002009): A facial appearance characteristic of a fetus or neonate due to oligohydramnios experienced in the womb, comprising ocular hypertelorism, low-set ears, receding chin, and flattening of the nose. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1145)
- Distal muscle weakness (HP:0002460): Reduced strength of the musculature of the distal extremities. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1145)
- Abnormal periventricular white matter morphology (HP:0002518): A structural abnormality of the myelinated axons (white matter) located near the cerebral ventricles. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1145)
- Kyphoscoliosis (HP:0002751): An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1145)
- Generalized muscle weakness (HP:0003324): Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1145)
- Motor polyneuropathy (HP:0007178). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1145)
- Mildly elevated creatine kinase (HP:0008180). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1145)
- Weakness of facial musculature (HP:0030319): Reduced strength of one or more muscles innervated by the facial nerve (the seventh cranial nerve). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1145)
- Cognitive impairment (HP:0100543): Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:1145)