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Traits

Traits linked to DYSF

dysferlin

The Human Phenotype Ontology links 75 traits to DYSF, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the musculoskeletal system

TraitHur ofta den förekommer
Muscle degenerationAlltid
Proximal neurogenic muscle weaknessAlltid
Absent muscle fiber dysferlinMycket ofta (80–99 %)
Difficulty in standingOfta (30–79 %)
Difficulty walking up stairsOfta (30–79 %)
Distal lower limb amyotrophyOfta (30–79 %)
Progressive proximal muscle weaknessOfta (30–79 %)
Tibialis anterior muscle atrophyOfta (30–79 %)
Wasting of muscles near the bodyOfta (30–79 %)
Deposits immunoreactive to beta-amyloid proteinIbland (5–29 %)
Difficulty runningIbland (5–29 %)
Neck flexion weaknessIbland (5–29 %)
Prominent swaybackIbland (5–29 %)
Limited hip movementSällan (1–4%)
Reduced spine movementSällan (1–4%)
Decreased lung function due to weak breathing musclesInte registrerat
Distal muscle wastingInte registrerat
EMG: myopathic abnormalitiesInte registrerat
Increased connective tissueInte registrerat
Increased variability in muscle fiber diameterInte registrerat
Muscle fiber splittingInte registrerat
Muscle stiffnessInte registrerat
Muscle tissue diseaseInte registrerat
Muscular dystrophyInte registrerat
Neck muscle weaknessInte registrerat
Rimmed vacuolesInte registrerat
Weakness of outermost musclesInte registrerat

Abnormality of limbs

TraitHur ofta den förekommer
Distal lower limb muscle weaknessOfta (30–79 %)
Distal upper limb amyotrophyOfta (30–79 %)
Lower limb muscle weaknessOfta (30–79 %)
Pelvic girdle muscle weaknessOfta (30–79 %)
Proximal lower limb muscle weaknessOfta (30–79 %)
Quadriceps weaknessOfta (30–79 %)
Tibialis muscle weaknessOfta (30–79 %)
Weak shoulder musclesOfta (30–79 %)
Absent ankle reflexesIbland (5–29 %)
Decreased/absent ankle reflexesIbland (5–29 %)
Foot dropIbland (5–29 %)
High-arched footIbland (5–29 %)
Increased size of calf musclesIbland (5–29 %)
Intrinsic hand muscle atrophyIbland (5–29 %)
Limb-girdle muscle weaknessIbland (5–29 %)
Proximal upper limb muscle weaknessIbland (5–29 %)
Triceps weaknessIbland (5–29 %)
Weakness of the intrinsic hand musclesIbland (5–29 %)
Winged shoulder bladeIbland (5–29 %)
Distal upper limb muscle weaknessSällan (1–4%)
Finger flexor weaknessSällan (1–4%)
Limited elbow movementSällan (1–4%)
Limited knee flexion/extensionSällan (1–4%)
Decreased Achilles reflexInte registrerat

Abnormality of the nervous system

TraitHur ofta den förekommer
Loss of ability to walkMycket ofta (80–99 %)
Abnormal gaitOfta (30–79 %)
Diminished deep tendon reflexIbland (5–29 %)
Toe walkingIbland (5–29 %)
Brachial plexus neuropathySällan (1–4%)
ChoreaSällan (1–4%)
Inability to walkSällan (1–4%)
Hyperlordotic gaitInte registrerat
Somatic sensory dysfunctionInte registrerat
TwitchingInte registrerat

Abnormality of the cardiovascular system

TraitHur ofta den förekommer
Abnormal EKGIbland (5–29 %)
Complete right bundle branch blockIbland (5–29 %)
Enlarged heartIbland (5–29 %)
Reduced left ventricular ejection fractionIbland (5–29 %)
Right ventricular hypertrophyIbland (5–29 %)
Abnormality of the cardiovascular systemInte registrerat

Constitutional symptom

TraitHur ofta den förekommer
Exercise-induced muscle painOfta (30–79 %)
Muscle acheIbland (5–29 %)
FatigueInte registrerat

Laboratory abnormality

TraitHur ofta den förekommer
Elevated blood creatine phosphokinaseAlltid
Abnormal levels of creatine kinase in bloodMycket ofta (80–99 %)
Muscular edemaIbland (5–29 %)

Abnormality of the digestive system

TraitHur ofta den förekommer
Poor swallowingSällan (1–4%)

Abnormality of the genitourinary system

TraitHur ofta den förekommer
Constant urinationSällan (1–4%)

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

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

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