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

Trait	How often it is seen
EMG: myopathic abnormalities	Always
Gowers sign	Always
Increased endomysial connective tissue	Always
Increased variability in muscle fiber diameter	Always
Muscle fiber necrosis	Always
Proximal neurogenic muscle weakness	Always
Difficulty walking up stairs	Often (30–79%)
Frequent falls	Often (30–79%)
Limited shoulder movement	Often (30–79%)
Muscular dystrophy	Often (30–79%)
Prominent swayback	Often (30–79%)
Scoliosis	Sometimes (5–29%)
Thoracic scoliosis	Sometimes (5–29%)
Flexed joint that cannot be straightened	Not recorded

Abnormality of limbs

Trait	How often it is seen
Ankle flexion contracture	Always
Increased size of calf muscles	Always
Limb-girdle muscle weakness	Always
Winged shoulder blade	Always
Calf muscle pseudohypertrophy	Often (30–79%)
Shortening of the achilles tendon	Often (30–79%)
Limb-girdle muscular dystrophy	Not recorded
Wasting of limb-girdle muscle	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Cardiac failure	Always
Disease of the heart muscle	Always
Stretched and thinned heart muscle	Always

Abnormality of the nervous system

Trait	How often it is seen
Toe walking	Often (30–79%)
Waddling gait	Often (30–79%)
Unsteady walk	Not recorded

Laboratory abnormality

Trait	How often it is seen
Elevated blood creatine phosphokinase	Always

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

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.

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