Požymiai

Su SCN4A susiję požymiai

sodium voltage-gated channel alpha subunit 4

Žmogaus fenotipo ontologija sieja 183 požymių su SCN4A, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Axial muscle weakness	Visada
Centrally nucleated skeletal muscle fibers	Visada
Difficulty walking up stairs	Visada
Diffuse skeletal muscle wasting	Visada
EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	Visada
EMG: myotonic discharges	Visada
Episodic flaccid weakness	Visada
Fatigable weakness	Visada
Generalized muscle weakness	Visada
Handgrip myotonia	Visada
Increased skeletal muscle cells	Visada
Increased variability in muscle fiber diameter	Visada
Low muscle tone	Visada
Lower limb pain	Visada
Muscle spasm	Visada
Muscle stiffness	Visada
Muscle tissue disease	Visada
Myotonia	Visada
Osteoporosis	Visada
Percussion myotonia	Visada
Prominent swayback	Visada
Tired easily	Visada
Abnormal muscle fiber morphology	Labai dažnai (80–99%)
EMG abnormality	Labai dažnai (80–99%)
Low muscle tone, in neonatal onset	Labai dažnai (80–99%)
Spasticity and rigidity of muscles	Labai dažnai (80–99%)
Cold paresis	Dažnai (30–79%)
Cold-sensitive myotonia	Dažnai (30–79%)
Exercise-induced muscle fatigue	Dažnai (30–79%)
Exercise-induced muscle stiffness	Dažnai (30–79%)
Funnel chest	Dažnai (30–79%)
Gowers sign	Dažnai (30–79%)
Limb contractures	Dažnai (30–79%)
Muscle degeneration	Dažnai (30–79%)
Muscle weakness	Dažnai (30–79%)
Myotonia of the face	Dažnai (30–79%)
Myotonia of the jaw	Dažnai (30–79%)
Myotonia of the lower limb	Dažnai (30–79%)
Myotonia of the upper limb	Dažnai (30–79%)
Paradoxical myotonia	Dažnai (30–79%)
Poorly developed skeletal musculature	Dažnai (30–79%)
Scoliosis	Dažnai (30–79%)
Decreased lung function due to weak breathing muscles	Kartais (5–29%)
EMG: myopathic abnormalities	Kartais (5–29%)
Fatty replacement of skeletal muscle	Kartais (5–29%)
Flexed joint that cannot be straightened	Kartais (5–29%)
Frequent falls	Kartais (5–29%)
Generalized decreased muscle tone	Kartais (5–29%)
Generalized increase in muscle cell size	Kartais (5–29%)
Hunched back	Kartais (5–29%)
Late-onset proximal muscle weakness	Kartais (5–29%)
Limitation of joint mobility	Kartais (5–29%)
Reduced spine movement	Kartais (5–29%)
Shoulder flexion contracture	Kartais (5–29%)
Slender long bone	Kartais (5–29%)
Small chest	Kartais (5–29%)
Thin ribs	Kartais (5–29%)
Thoracic scoliosis	Kartais (5–29%)
Fatigable weakness of respiratory muscles	Retai (1–4 %)
Myotonia with warm-up phenomenon	Retai (1–4 %)
Proximal neurogenic muscle weakness	Retai (1–4 %)
Respiratory paralysis	Retai (1–4 %)

Abnormality of head or neck

Požymis	Kaip dažnai pasireiškia
Downward slanting of the opening between the eyelids	Visada
High forehead	Visada
High palate	Visada
Open mouth	Visada
Scaphocephaly	Visada
Short neck	Visada
Weakness of facial musculature	Labai dažnai (80–99%)
Frontal bossing	Dažnai (30–79%)
Increased size of facial muscles	Dažnai (30–79%)
Increased stiffness of facial muscles	Dažnai (30–79%)
Little lower jaw	Dažnai (30–79%)
Long face	Dažnai (30–79%)
Dental crowding	Kartais (5–29%)
Eye folds	Kartais (5–29%)
Monobrow	Kartais (5–29%)
Receding chin	Kartais (5–29%)
Short nose	Kartais (5–29%)
Short philtrum	Kartais (5–29%)
Tented mouth	Kartais (5–29%)
Triangular mouth	Kartais (5–29%)
Wide nasal bridge	Kartais (5–29%)

Abnormality of the nervous system

Požymis	Kaip dažnai pasireiškia
Abnormal gait	Visada
Absent reflexes	Visada
Motor delay	Visada
Normal pressure hydrocephalus	Visada
Paralysis	Visada
Periodic hypokalemic paresis	Visada
Periodic paralysis	Visada
Cerebral palsy	Labai dažnai (80–99%)
Diminished deep tendon reflex	Labai dažnai (80–99%)
Periodic hyperkalemic paralysis	Labai dažnai (80–99%)
Communication delay	Dažnai (30–79%)
Muscle twitch	Dažnai (30–79%)
Waddling gait	Dažnai (30–79%)
Intellectual disability	Kartais (5–29%)
Leukoencephalopathy	Kartais (5–29%)
Pins and needles feeling	Kartais (5–29%)
Choking episodes	Retai (1–4 %)

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Club foot on both sides	Visada
Curvature of digit	Visada
Dislocated hip since birth	Visada
High-arched foot	Visada
Hyporeflexia of lower limbs	Visada
Limb muscle weakness	Visada
Proximal lower limb muscle weakness	Visada
Hip contracture	Dažnai (30–79%)
Talipes	Dažnai (30–79%)
Congenital finger flexion contractures	Kartais (5–29%)
Elbow flexion contracture	Kartais (5–29%)
Knee contracture	Kartais (5–29%)
Pes valgus	Kartais (5–29%)
Shortening of the achilles tendon	Kartais (5–29%)
Tapered toe	Kartais (5–29%)
Winged shoulder blade	Kartais (5–29%)

Laboratory abnormality

Požymis	Kaip dažnai pasireiškia
Low blood potassium levels	Visada
Mildly elevated creatine kinase	Visada
Recurrent low potassium	Visada
Elevated blood creatine phosphokinase	Labai dažnai (80–99%)
Increased intramyocellular lipid droplets	Labai dažnai (80–99%)
Increased circulating potassium concentration	Dažnai (30–79%)
Nonimmune hydrops fetalis	Dažnai (30–79%)
Postprandial hyperglycemia	Dažnai (30–79%)
Abnormal circulating potassium concentration	Kartais (5–29%)
Fluid around lungs	Kartais (5–29%)
Low blood sodium levels	Kartais (5–29%)
Malignant hyperthermia	Kartais (5–29%)
Hyperkalemia while symptomatic	Neužfiksuota

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Cross-eyed	Visada
Drooping of both upper eyelids	Visada
Drooping upper eyelid	Visada
Esodeviation	Visada
Involuntary, rapid, rhythmic eye movements	Visada
Paralysis or weakness of muscles within or surrounding outer part of eye	Visada
Eye muscle paralysis	Dažnai (30–79%)
Blurred vision	Kartais (5–29%)
Bulging eye	Kartais (5–29%)
Deeply set eye	Kartais (5–29%)
Double vision	Kartais (5–29%)
Weakness of muscles controlling eye movement	Kartais (5–29%)

Abnormality of the respiratory system

Požymis	Kaip dažnai pasireiškia
Apnea	Visada
Breathing difficulty	Visada
Noisy breathing	Visada
Respiratory function loss	Visada
Neonatal inspiratory stridor	Dažnai (30–79%)
Poorly developed lungs	Dažnai (30–79%)
Breathing difficulties	Kartais (5–29%)
Laryngospasm	Retai (1–4 %)
Apneic episodes in infancy	Neužfiksuota
Inspiratory stridor	Neužfiksuota

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Feeding difficulties	Dažnai (30–79%)
Poor swallowing	Dažnai (30–79%)
Accumulation of fluid in the abdomen	Kartais (5–29%)
Enlarged liver	Kartais (5–29%)
Feeding difficulties in infancy	Kartais (5–29%)
Loss of bowel control	Kartais (5–29%)
Tube feeding	Kartais (5–29%)

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
Slow heartbeats	Visada
Abnormal heart rate	Kartais (5–29%)
Cardiac failure	Kartais (5–29%)
Tricuspid regurgitation	Kartais (5–29%)
Impaired myocardial contractility	Neužfiksuota

Constitutional symptom

Požymis	Kaip dažnai pasireiškia
Chest tightness	Visada
Fatigue	Visada
Muscle ache	Visada
Chest pain	Dažnai (30–79%)
Pain	Kartais (5–29%)

Abnormality of prenatal development or birth

Požymis	Kaip dažnai pasireiškia
High levels of amniotic fluid	Visada
Feet or buttocks of fetus positioned near opening of uterus	Dažnai (30–79%)
Less than 10 fetal movements in 12 hours	Dažnai (30–79%)

Abnormality of the voice

Požymis	Kaip dažnai pasireiškia
Nasal speech	Visada
Weak cry	Dažnai (30–79%)
Abnormality of the voice	Kartais (5–29%)

Abnormality of the endocrine system

Požymis	Kaip dažnai pasireiškia
Underactive thyroid	Kartais (5–29%)
Adrenocortical adenoma	Retai (1–4 %)

Abnormality of the immune system

Požymis	Kaip dažnai pasireiškia
Anti-neuromuscular Junction acetylcholine receptor antibody positivity	Dažnai (30–79%)
Asthma	Kartais (5–29%)

Abnormal cellular phenotype

Požymis	Kaip dažnai pasireiškia
Decreased activity of mitochondrial complex I	Visada

Abnormality of the breast

Požymis	Kaip dažnai pasireiškia
Enlarged male breast	Visada

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Low-set ears	Kartais (5–29%)

Abnormality of the integument

Požymis	Kaip dažnai pasireiškia
Blue discoloration of the skin	Visada

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Short stature	Kartais (5–29%)

Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.

Iš kur tai žinoma

Žmogaus fenotipo ontologija, 2026-09-01 leidimas: su SCN4A susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

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