Gå til indhold
Brug dine HSA- eller FSA-midler

Traits

Traits linked to SGCA

sarcoglycan alpha

The Human Phenotype Ontology links 29 traits to SGCA, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the musculoskeletal system

TraitHvor ofte det ses
EMG: myopathic abnormalitiesAltid
Gowers signAltid
Increased endomysial connective tissueAltid
Increased variability in muscle fiber diameterAltid
Muscle fiber necrosisAltid
Proximal neurogenic muscle weaknessAltid
Difficulty walking up stairsOfte (30–79 %)
Frequent fallsOfte (30–79 %)
Limited shoulder movementOfte (30–79 %)
Muscular dystrophyOfte (30–79 %)
Prominent swaybackOfte (30–79 %)
ScoliosisNogle gange (5–29 %)
Thoracic scoliosisNogle gange (5–29 %)
Flexed joint that cannot be straightenedIkke registreret

Abnormality of limbs

TraitHvor ofte det ses
Ankle flexion contractureAltid
Increased size of calf musclesAltid
Limb-girdle muscle weaknessAltid
Winged shoulder bladeAltid
Calf muscle pseudohypertrophyOfte (30–79 %)
Shortening of the achilles tendonOfte (30–79 %)
Limb-girdle muscular dystrophyIkke registreret
Wasting of limb-girdle muscleIkke registreret

Abnormality of the cardiovascular system

TraitHvor ofte det ses
Cardiac failureAltid
Disease of the heart muscleAltid
Stretched and thinned heart muscleAltid

Abnormality of the nervous system

TraitHvor ofte det ses
Toe walkingOfte (30–79 %)
Waddling gaitOfte (30–79 %)
Unsteady walkIkke registreret

Laboratory abnormality

TraitHvor ofte det ses
Elevated blood creatine phosphokinaseAltid

Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.

Hvor oplysningerne kommer fra

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

Én test. Svar for hele livet.

Fra 449 $Gratis forsendelse · Resultater på 6–8 uger

Bestil min Genome Test