Trăsături

Trăsături asociate cu NEB

nebulin

Human Phenotype Ontology asociază 129 trăsături cu NEB, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

NEB

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Arthrogryposis multiplex congenita	Foarte des (80–99%)
EMG: myopathic abnormalities	Foarte des (80–99%)
Generalized muscle weakness	Foarte des (80–99%)
Muscle tissue disease	Foarte des (80–99%)
Severely decreased muscle tone	Foarte des (80–99%)
Abnormality of the chest	Des (30–79%)
Axial muscle weakness	Des (30–79%)
Fatigable weakness of distal limb muscles	Des (30–79%)
Fatty replacement of skeletal muscle	Des (30–79%)
Flexed joint that cannot be straightened	Des (30–79%)
Generalized muscle wasting	Des (30–79%)
Increased connective tissue	Des (30–79%)
Increased variability in muscle fiber diameter	Des (30–79%)
Low muscle tone, in neonatal onset	Des (30–79%)
Multiple fractures present at birth	Des (30–79%)
Muscle degeneration	Des (30–79%)
Muscle stiffness	Des (30–79%)
Neck flexion weakness	Des (30–79%)
Progressive distal muscle weakness	Des (30–79%)
Reduced spine movement	Des (30–79%)
Sternocleidomastoid amyotrophy	Des (30–79%)
Type 1 muscle fiber predominance	Des (30–79%)
Abnormality of the diaphragm	Uneori (5–29%)
Decreased lung function due to weak breathing muscles	Uneori (5–29%)
Fatigable weakness of bulbar muscles	Uneori (5–29%)
Fatigable weakness of respiratory muscles	Uneori (5–29%)
Fatiguable weakness of proximal limb muscles	Uneori (5–29%)
Frequent falls	Uneori (5–29%)
Funnel chest	Uneori (5–29%)
Generalized decreased muscle tone	Uneori (5–29%)
Muscle fiber splitting	Uneori (5–29%)
Narrow chest	Uneori (5–29%)
Neck muscle weakness	Uneori (5–29%)
Progressive proximal muscle weakness	Uneori (5–29%)
Prominent swayback	Uneori (5–29%)
Rimmed vacuoles	Uneori (5–29%)
Scoliosis	Uneori (5–29%)
Thin ribs	Uneori (5–29%)
Tired easily	Uneori (5–29%)
Hunched back	Rar (1–4%)
Abnormality of the rib cage	Neînregistrat
Bulbar palsy	Neînregistrat
Congenital contracture	Neînregistrat
EMG: neuropathic changes	Neînregistrat
Late-onset distal muscle weakness	Neînregistrat
Proximal neurogenic muscle weakness	Neînregistrat

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Ankle flexion contracture	Des (30–79%)
Calf muscle pseudohypertrophy	Des (30–79%)
Foot drop	Des (30–79%)
Limb muscle weakness	Des (30–79%)
Limb-girdle muscle weakness	Des (30–79%)
Weakness of long finger extensor muscles	Des (30–79%)
Weakness of the intrinsic hand muscles	Des (30–79%)
Club feet	Uneori (5–29%)
High-arched foot	Uneori (5–29%)
Hip dislocation	Uneori (5–29%)
Inward turned thumb	Uneori (5–29%)
Knock knees	Uneori (5–29%)
Outward bow-leggedness	Uneori (5–29%)
Thenar muscle atrophy	Uneori (5–29%)
Winged shoulder blade	Uneori (5–29%)
Hand clenching	Neînregistrat
Talipes	Neînregistrat

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Akinesia	Întotdeauna
Abnormal gait	Des (30–79%)
Clumsiness	Des (30–79%)
Decreased muscle movement	Des (30–79%)
Decreased reflex response	Des (30–79%)
Motor delay	Des (30–79%)
Slow movements	Des (30–79%)
Absent reflexes	Uneori (5–29%)
Bulbar signs	Uneori (5–29%)
Difficulty articulating speech	Uneori (5–29%)
Falls	Uneori (5–29%)
High stepping	Uneori (5–29%)
Tremor	Uneori (5–29%)
Waddling gait	Uneori (5–29%)
Inability to walk	Neînregistrat
Poor fine motor coordination	Neînregistrat

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Weakness of facial musculature	Foarte des (80–99%)
Bell's palsy	Des (30–79%)
High palate	Des (30–79%)
Myopathic facies	Des (30–79%)
Narrow mouth	Des (30–79%)
Facial diplegia	Uneori (5–29%)
High, narrow palate	Uneori (5–29%)
Little lower jaw	Uneori (5–29%)
Long face	Uneori (5–29%)
Long philtrum	Uneori (5–29%)
Narrow face	Uneori (5–29%)
Short neck	Uneori (5–29%)
Wide fontanelles	Uneori (5–29%)
Cleft palate	Neînregistrat

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Respiratory failure	Întotdeauna
Breathing difficulties	Des (30–79%)
Respiratory function loss	Des (30–79%)
Exertional breathlessness	Uneori (5–29%)
Nocturnal hypoventilation	Uneori (5–29%)
Poorly developed lungs	Uneori (5–29%)
Reduced vital capacity	Uneori (5–29%)
Apnea	Neînregistrat

Abnormality of prenatal development or birth

Trăsătură	Cât de frecvent apare
Less than 10 fetal movements in 12 hours	Întotdeauna
Feet or buttocks of fetus positioned near opening of uterus	Des (30–79%)
High levels of amniotic fluid	Des (30–79%)
Fetal akinesia sequence	Uneori (5–29%)
Premature birth	Uneori (5–29%)

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Disease of the heart muscle	Uneori (5–29%)
Enlarged heart	Uneori (5–29%)
Heart stops beating	Uneori (5–29%)
Stretched and thinned heart muscle	Uneori (5–29%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Neuromuscular dysphagia	Des (30–79%)
Poor swallowing	Des (30–79%)
Feeding difficulties	Uneori (5–29%)
Feeding difficulties in infancy	Uneori (5–29%)

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Drooping upper eyelid	Uneori (5–29%)
Eye muscle paralysis	Uneori (5–29%)
Wide-set eyes	Uneori (5–29%)
Abnormality of the eye	Neînregistrat

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Increased muscle lipid content	Des (30–79%)
Edema of the dorsum of hands	Uneori (5–29%)
Elevated blood creatine phosphokinase	Uneori (5–29%)
Mildly elevated creatine kinase	Uneori (5–29%)

Abnormal cellular phenotype

Trăsătură	Cât de frecvent apare
Nemaline bodies	Întotdeauna
Mitochondrial depletion	Neînregistrat

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Hypospadias	Uneori (5–29%)
Short penis	Uneori (5–29%)

Abnormality of the ear

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

Constitutional symptom

Trăsătură	Cât de frecvent apare
Decreased ability to exercise	Des (30–79%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Slender build	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

Human Phenotype Ontology, versiunea 2026-09-01: trăsăturile asociate cu NEB și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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