Traits

Traits linked to SCN4A

sodium voltage-gated channel alpha subunit 4

The Human Phenotype Ontology links 183 traits to SCN4A, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the musculoskeletal system

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

Abnormality of head or neck

Trait	Cât de frecvent apare
Downward slanting of the opening between the eyelids	Întotdeauna
High forehead	Întotdeauna
High palate	Întotdeauna
Open mouth	Întotdeauna
Scaphocephaly	Întotdeauna
Short neck	Întotdeauna
Weakness of facial musculature	Foarte des (80–99%)
Frontal bossing	Des (30–79%)
Increased size of facial muscles	Des (30–79%)
Increased stiffness of facial muscles	Des (30–79%)
Little lower jaw	Des (30–79%)
Long face	Des (30–79%)
Dental crowding	Uneori (5–29%)
Eye folds	Uneori (5–29%)
Monobrow	Uneori (5–29%)
Receding chin	Uneori (5–29%)
Short nose	Uneori (5–29%)
Short philtrum	Uneori (5–29%)
Tented mouth	Uneori (5–29%)
Triangular mouth	Uneori (5–29%)
Wide nasal bridge	Uneori (5–29%)

Abnormality of the nervous system

Trait	Cât de frecvent apare
Abnormal gait	Întotdeauna
Absent reflexes	Întotdeauna
Motor delay	Întotdeauna
Normal pressure hydrocephalus	Întotdeauna
Paralysis	Întotdeauna
Periodic hypokalemic paresis	Întotdeauna
Periodic paralysis	Întotdeauna
Cerebral palsy	Foarte des (80–99%)
Diminished deep tendon reflex	Foarte des (80–99%)
Periodic hyperkalemic paralysis	Foarte des (80–99%)
Communication delay	Des (30–79%)
Muscle twitch	Des (30–79%)
Waddling gait	Des (30–79%)
Intellectual disability	Uneori (5–29%)
Leukoencephalopathy	Uneori (5–29%)
Pins and needles feeling	Uneori (5–29%)
Choking episodes	Rar (1–4%)

Abnormality of limbs

Trait	Cât de frecvent apare
Club foot on both sides	Întotdeauna
Curvature of digit	Întotdeauna
Dislocated hip since birth	Întotdeauna
High-arched foot	Întotdeauna
Hyporeflexia of lower limbs	Întotdeauna
Limb muscle weakness	Întotdeauna
Proximal lower limb muscle weakness	Întotdeauna
Hip contracture	Des (30–79%)
Talipes	Des (30–79%)
Congenital finger flexion contractures	Uneori (5–29%)
Elbow flexion contracture	Uneori (5–29%)
Knee contracture	Uneori (5–29%)
Pes valgus	Uneori (5–29%)
Shortening of the achilles tendon	Uneori (5–29%)
Tapered toe	Uneori (5–29%)
Winged shoulder blade	Uneori (5–29%)

Laboratory abnormality

Trait	Cât de frecvent apare
Low blood potassium levels	Întotdeauna
Mildly elevated creatine kinase	Întotdeauna
Recurrent low potassium	Întotdeauna
Elevated blood creatine phosphokinase	Foarte des (80–99%)
Increased intramyocellular lipid droplets	Foarte des (80–99%)
Increased circulating potassium concentration	Des (30–79%)
Nonimmune hydrops fetalis	Des (30–79%)
Postprandial hyperglycemia	Des (30–79%)
Abnormal circulating potassium concentration	Uneori (5–29%)
Fluid around lungs	Uneori (5–29%)
Low blood sodium levels	Uneori (5–29%)
Malignant hyperthermia	Uneori (5–29%)
Hyperkalemia while symptomatic	Neînregistrat

Abnormality of the eye

Trait	Cât de frecvent apare
Cross-eyed	Întotdeauna
Drooping of both upper eyelids	Întotdeauna
Drooping upper eyelid	Întotdeauna
Esodeviation	Întotdeauna
Involuntary, rapid, rhythmic eye movements	Întotdeauna
Paralysis or weakness of muscles within or surrounding outer part of eye	Întotdeauna
Eye muscle paralysis	Des (30–79%)
Blurred vision	Uneori (5–29%)
Bulging eye	Uneori (5–29%)
Deeply set eye	Uneori (5–29%)
Double vision	Uneori (5–29%)
Weakness of muscles controlling eye movement	Uneori (5–29%)

Abnormality of the respiratory system

Trait	Cât de frecvent apare
Apnea	Întotdeauna
Breathing difficulty	Întotdeauna
Noisy breathing	Întotdeauna
Respiratory function loss	Întotdeauna
Neonatal inspiratory stridor	Des (30–79%)
Poorly developed lungs	Des (30–79%)
Breathing difficulties	Uneori (5–29%)
Laryngospasm	Rar (1–4%)
Apneic episodes in infancy	Neînregistrat
Inspiratory stridor	Neînregistrat

Abnormality of the digestive system

Trait	Cât de frecvent apare
Feeding difficulties	Des (30–79%)
Poor swallowing	Des (30–79%)
Accumulation of fluid in the abdomen	Uneori (5–29%)
Enlarged liver	Uneori (5–29%)
Feeding difficulties in infancy	Uneori (5–29%)
Loss of bowel control	Uneori (5–29%)
Tube feeding	Uneori (5–29%)

Abnormality of the cardiovascular system

Trait	Cât de frecvent apare
Slow heartbeats	Întotdeauna
Abnormal heart rate	Uneori (5–29%)
Cardiac failure	Uneori (5–29%)
Tricuspid regurgitation	Uneori (5–29%)
Impaired myocardial contractility	Neînregistrat

Constitutional symptom

Trait	Cât de frecvent apare
Chest tightness	Întotdeauna
Fatigue	Întotdeauna
Muscle ache	Întotdeauna
Chest pain	Des (30–79%)
Pain	Uneori (5–29%)

Abnormality of prenatal development or birth

Trait	Cât de frecvent apare
High levels of amniotic fluid	Întotdeauna
Feet or buttocks of fetus positioned near opening of uterus	Des (30–79%)
Less than 10 fetal movements in 12 hours	Des (30–79%)

Abnormality of the voice

Trait	Cât de frecvent apare
Nasal speech	Întotdeauna
Weak cry	Des (30–79%)
Abnormality of the voice	Uneori (5–29%)

Abnormality of the endocrine system

Trait	Cât de frecvent apare
Underactive thyroid	Uneori (5–29%)
Adrenocortical adenoma	Rar (1–4%)

Abnormality of the immune system

Trait	Cât de frecvent apare
Anti-neuromuscular Junction acetylcholine receptor antibody positivity	Des (30–79%)
Asthma	Uneori (5–29%)

Abnormal cellular phenotype

Trait	Cât de frecvent apare
Decreased activity of mitochondrial complex I	Întotdeauna

Abnormality of the breast

Trait	Cât de frecvent apare
Enlarged male breast	Întotdeauna

Abnormality of the ear

Trait	Cât de frecvent apare
Low-set ears	Uneori (5–29%)

Abnormality of the integument

Trait	Cât de frecvent apare
Blue discoloration of the skin	Întotdeauna

Growth abnormality

Trait	Cât de frecvent apare
Short stature	Uneori (5–29%)

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

The Human Phenotype Ontology, release 2026-09-01: the traits linked to SCN4A and how often each is seen. Find out more at hpo.jax.org.

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