Egenskaper

Egenskaper kopplade till ACTA1

actin alpha 1, skeletal muscle

Human Phenotype Ontology kopplar 181 egenskaper till ACTA1, sorterade efter kroppssystem: drag som ses hos personer med ett av genens sällsynta tillstånd.

Abnormality of the musculoskeletal system

Egenskap	Hur ofta den förekommer
Abnormality of skeletal muscle fiber size	Alltid
Generalized decreased muscle tone	Alltid
Generalized muscle weakness	Alltid
Increased connective tissue	Alltid
Increased endomysial connective tissue	Alltid
Increased variability in muscle fiber diameter	Alltid
Joint contracture	Alltid
Low muscle tone	Alltid
Muscle degeneration	Alltid
Neck flexion weakness	Alltid
Poor head control	Alltid
Type 1 muscle fiber predominance	Alltid
Abnormally shaped skeletal	Mycket ofta (80–99 %)
Autophagic vacuoles	Mycket ofta (80–99 %)
Axial muscle weakness	Mycket ofta (80–99 %)
Difficulty walking up stairs	Mycket ofta (80–99 %)
EMG: myopathic abnormalities	Mycket ofta (80–99 %)
Gowers sign	Mycket ofta (80–99 %)
Handgrip myotonia	Mycket ofta (80–99 %)
Low muscle tone, in neonatal onset	Mycket ofta (80–99 %)
Muscle fiber splitting	Mycket ofta (80–99 %)
Muscle tissue disease	Mycket ofta (80–99 %)
Myofibrillar myopathy	Mycket ofta (80–99 %)
Neck muscle weakness	Mycket ofta (80–99 %)
Progressive muscle weakness	Mycket ofta (80–99 %)
Proximal neurogenic muscle weakness	Mycket ofta (80–99 %)
Reduced spine movement	Mycket ofta (80–99 %)
Rimmed vacuoles	Mycket ofta (80–99 %)
Scoliosis	Mycket ofta (80–99 %)
Severely decreased muscle tone	Mycket ofta (80–99 %)
Type 1 muscle fiber atrophy	Mycket ofta (80–99 %)
Weakness of outermost muscles	Mycket ofta (80–99 %)
Abnormality of the chest	Ofta (30–79 %)
Decreased lung function due to weak breathing muscles	Ofta (30–79 %)
Fatigable weakness of bulbar muscles	Ofta (30–79 %)
Fatigable weakness of distal limb muscles	Ofta (30–79 %)
Flexed joint that cannot be straightened	Ofta (30–79 %)
Generalized muscle wasting	Ofta (30–79 %)
Hamstring contractures	Ofta (30–79 %)
Multiple fractures present at birth	Ofta (30–79 %)
Muscle fiber necrosis	Ofta (30–79 %)
Muscle stiffness	Ofta (30–79 %)
Prominent swayback	Ofta (30–79 %)
Thoracic scoliosis	Ofta (30–79 %)
Tired easily	Ofta (30–79 %)
Weakness of muscles of respiration	Ofta (30–79 %)
Abnormality of the diaphragm	Ibland (5–29 %)
Arthrogryposis multiplex congenita	Ibland (5–29 %)
Fatigable weakness of respiratory muscles	Ibland (5–29 %)
Fatiguable weakness of proximal limb muscles	Ibland (5–29 %)
Funnel chest	Ibland (5–29 %)
Kyphoscoliosis	Ibland (5–29 %)
Muscle weakness between ribs	Ibland (5–29 %)
Narrow chest	Ibland (5–29 %)
Poorly developed skeletal musculature	Ibland (5–29 %)
Rigidity	Ibland (5–29 %)
Spasticity and rigidity of muscles	Ibland (5–29 %)
Thin ribs	Ibland (5–29 %)
Hunched back	Sällan (1–4%)
Bulbar palsy	Inte registrerat
Centrally nucleated skeletal muscle fibers	Inte registrerat
EMG: neuropathic changes	Inte registrerat
Frequent falls	Inte registrerat
Late-onset distal muscle weakness	Inte registrerat

Abnormality of limbs

Egenskap	Hur ofta den förekommer
Joint contracture of the hand	Alltid
Limb-girdle muscular dystrophy	Mycket ofta (80–99 %)
Winged shoulder blade	Mycket ofta (80–99 %)
Wrist drop	Mycket ofta (80–99 %)
Elbow flexion contracture	Ofta (30–79 %)
Foot drop	Ofta (30–79 %)
Hip contracture	Ofta (30–79 %)
Knee contracture	Ofta (30–79 %)
Limb muscle weakness	Ofta (30–79 %)
Limb-girdle muscle weakness	Ofta (30–79 %)
Ankle flexion contracture	Ibland (5–29 %)
Club feet	Ibland (5–29 %)
Dislocated hip since birth	Ibland (5–29 %)
Flexion contracture of finger	Ibland (5–29 %)
High-arched foot	Ibland (5–29 %)
Hip dislocation	Ibland (5–29 %)
Inability to straighten knee	Ibland (5–29 %)
Inward turned thumb	Ibland (5–29 %)
Knock knees	Ibland (5–29 %)
Outward bow-leggedness	Ibland (5–29 %)
Pelvic girdle muscle weakness	Ibland (5–29 %)
Weak shoulder muscles	Ibland (5–29 %)
Hand muscle degeneration	Inte registrerat
Shortening of the achilles tendon	Inte registrerat

Abnormality of the nervous system

Egenskap	Hur ofta den förekommer
Absent reflexes	Alltid
Delayed ability to sit	Alltid
Global developmental delay	Mycket ofta (80–99 %)
Waddling gait	Mycket ofta (80–99 %)
Abnormal gait	Ofta (30–79 %)
Clumsiness	Ofta (30–79 %)
Decreased muscle movement	Ofta (30–79 %)
Decreased reflex response	Ofta (30–79 %)
Delayed ability to roll over	Ofta (30–79 %)
Diminished deep tendon reflex	Ofta (30–79 %)
Motor delay	Ofta (30–79 %)
Slow movements	Ofta (30–79 %)
Bulbar signs	Ibland (5–29 %)
Difficulty sleeping	Ibland (5–29 %)
Falls	Ibland (5–29 %)
Headache	Ibland (5–29 %)
Increased reflexes	Ibland (5–29 %)
Tremor	Ibland (5–29 %)
Poor fine motor coordination	Inte registrerat

Abnormality of head or neck

Egenskap	Hur ofta den förekommer
Expressionless face	Alltid
Weakness of facial musculature	Alltid
Bell's palsy	Mycket ofta (80–99 %)
Wry neck	Mycket ofta (80–99 %)
Big lower jaw	Ofta (30–79 %)
Dental crowding	Ofta (30–79 %)
High palate	Ofta (30–79 %)
Long face	Ofta (30–79 %)
Myopathic facies	Ofta (30–79 %)
Narrow face	Ofta (30–79 %)
Chewing difficulties	Ibland (5–29 %)
Facial diplegia	Ibland (5–29 %)
High, narrow palate	Ibland (5–29 %)
Little lower jaw	Ibland (5–29 %)
Long philtrum	Ibland (5–29 %)
Short neck	Ibland (5–29 %)
Wide fontanelles	Ibland (5–29 %)
Receding chin	Inte registrerat

Abnormality of the respiratory system

Egenskap	Hur ofta den förekommer
Respiratory failure	Alltid
Respiratory failure requiring assisted ventilation	Alltid
Respiratory function loss	Alltid
Abnormality of the respiratory system	Ofta (30–79 %)
Abnormality on pulmonary function testing	Ofta (30–79 %)
Breathing difficulties	Ofta (30–79 %)
High blood carbon dioxide level	Ibland (5–29 %)
Low blood oxygen level	Ibland (5–29 %)
Nocturnal hypoventilation	Ibland (5–29 %)
Poorly developed lungs	Ibland (5–29 %)
Reduced vital capacity	Ibland (5–29 %)

Abnormality of the digestive system

Egenskap	Hur ofta den förekommer
Feeding difficulties	Alltid
Tube feeding	Alltid
Poor swallowing	Mycket ofta (80–99 %)
Gastrostomy tube feeding in infancy	Ofta (30–79 %)
Nasogastric tube feeding	Ofta (30–79 %)
Neuromuscular dysphagia	Ofta (30–79 %)
Poor appetite	Ofta (30–79 %)
Feeding difficulties in infancy	Ibland (5–29 %)
Nasogastric tube feeding in infancy	Ibland (5–29 %)

Abnormality of the cardiovascular system

Egenskap	Hur ofta den förekommer
Cardiac conduction abnormality	Ofta (30–79 %)
Abnormality of the heart	Ibland (5–29 %)
Cor pulmonale	Ibland (5–29 %)
Disease of the heart muscle	Ibland (5–29 %)
Enlarged heart	Ibland (5–29 %)
Heart stops beating	Ibland (5–29 %)
Slow heartbeats	Ibland (5–29 %)
Stretched and thinned heart muscle	Ibland (5–29 %)

Abnormality of prenatal development or birth

Egenskap	Hur ofta den förekommer
Feet or buttocks of fetus positioned near opening of uterus	Alltid
Less than 10 fetal movements in 12 hours	Mycket ofta (80–99 %)
High levels of amniotic fluid	Ofta (30–79 %)
Fetal akinesia sequence	Ibland (5–29 %)
Premature birth	Ibland (5–29 %)

Laboratory abnormality

Egenskap	Hur ofta den förekommer
Chylothorax	Alltid
Elevated blood creatine phosphokinase	Mycket ofta (80–99 %)
Increased muscle lipid content	Ofta (30–79 %)
Edema of the dorsum of hands	Ibland (5–29 %)
Mildly elevated creatine kinase	Ibland (5–29 %)

Abnormality of the eye

Egenskap	Hur ofta den förekommer
Drooping upper eyelid	Ibland (5–29 %)
Eye muscle paralysis	Ibland (5–29 %)
Wide-set eyes	Ibland (5–29 %)

Abnormality of the immune system

Egenskap	Hur ofta den förekommer
Pneumonia	Ofta (30–79 %)
Aspiration pneumonia	Ibland (5–29 %)
Recurrent respiratory infections	Ibland (5–29 %)

Growth abnormality

Egenskap	Hur ofta den förekommer
Faltering weight	Ofta (30–79 %)
Weight loss	Ofta (30–79 %)
Slender build	Ibland (5–29 %)

Abnormality of blood and blood-forming tissues

Egenskap	Hur ofta den förekommer
Bleeding in brain	Alltid
Subdural hemorrhage	Alltid

Abnormality of the genitourinary system

Egenskap	Hur ofta den förekommer
Hypospadias	Ibland (5–29 %)
Short penis	Ibland (5–29 %)

Constitutional symptom

Egenskap	Hur ofta den förekommer
Decreased ability to exercise	Ofta (30–79 %)
Fatigue	Ofta (30–79 %)

Abnormal cellular phenotype

Egenskap	Hur ofta den förekommer
Nemaline bodies	Alltid

Abnormality of the ear

Egenskap	Hur ofta den förekommer
Low-set ears	Ibland (5–29 %)

Abnormality of the voice

Egenskap	Hur ofta den förekommer
Hoarse voice	Ibland (5–29 %)

Hur ofta det förekommer hos personer med ett av genens tillstånd, den vanligaste frekvensen bland dem, enligt Human Phenotype Ontology. Dessa sidor beskriver egenskaper och forskningen bakom dem. De är inte en diagnos, och det är läkare eller genetisk rådgivare du bör fråga om symtom.

Varifrån informationen kommer

Human Phenotype Ontology, version 2026-09-01: egenskaperna som kopplas till ACTA1 och hur ofta varje egenskap ses. Läs mer på hpo.jax.org.

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