Traits

Traits linked to HSPB8

heat shock protein family B (small) member 8

The Human Phenotype Ontology links 75 traits to HSPB8, 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
Centrally nucleated skeletal muscle fibers	Always
Difficulty walking up stairs	Always
EMG: myopathic abnormalities	Always
EMG: neuropathic changes	Always
Excessive inward curvature of lower spine	Always
Fatty replacement of skeletal muscle	Always
Fiber type grouping	Always
Foot pain	Always
Increased endomysial connective tissue	Always
Increased variability in muscle fiber diameter	Always
Joint contracture	Always
Muscle degeneration	Always
Muscle fiber splitting	Always
Muscle spasm	Always
Neck flexion weakness	Always
Reduced spine movement	Always
Rimmed vacuoles	Always
Scoliosis	Always
Type 2 muscle fiber atrophy	Always
Z-band streaming	Always
Camptocormia	Often (30–79%)
Distal muscle wasting	Not recorded
EMG: chronic denervation signs	Not recorded
Weakness of outermost muscles	Not recorded

Abnormality of limbs

Trait	How often it is seen
Absent ankle reflexes	Always
Biceps hyporeflexia	Always
Brachioradialis hyporeflexia	Always
Decreased knee jerk reflex	Always
Distal lower limb muscle weakness	Always
Foot drop	Always
Hand muscle weakness	Always
Increased size of calf muscles	Always
Limb-girdle muscle weakness	Always
Lower limb muscle weakness	Always
Proximal lower limb muscle weakness	Always
Proximal upper limb amyotrophy	Always
Proximal upper limb muscle weakness	Always
Shortening of the achilles tendon	Always
Triceps hyporeflexia	Always
Weak shoulder muscles	Always
Winged shoulder blade	Very often (80–99%)
High-arched foot	Often (30–79%)
Areflexia of lower limbs	Not recorded
Hyporeflexia of lower limbs	Not recorded
Paresis of extensor muscles of the big toe	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Abnormal gait	Always
Absent reflexes	Always
Decreased amplitude of sensory action potentials	Always
Decreased number of large peripheral myelinated nerve fibers	Always
Falls	Always
High stepping	Always
Impaired heel-walking ability	Always
Pauses in breathing while sleeping	Always
Peripheral neuropathy	Always
Waddling gait	Always
Decreased reflex response	Not recorded
Decreased sensation in extremities	Not recorded
Paralysis	Not recorded
Peripheral axonal neuropathy	Not recorded

Laboratory abnormality

Trait	How often it is seen
Diabetes mellitus	Always
High blood uric acid level	Always
High liver enzymes	Always
Mildly elevated creatine kinase	Always
Elevated blood creatine phosphokinase	Very often (80–99%)

Abnormality of the respiratory system

Trait	How often it is seen
Partial or complete collapse of part or entire lung	Always
Respiratory failure	Always
Reduced forced vital capacity	Often (30–79%)
Respiratory function loss	Often (30–79%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormality of the cardiovascular system	Always
High blood pressure	Always

Constitutional symptom

Trait	How often it is seen
Decreased ability to exercise	Always
Lack of energy and strength	Always

Abnormality of head or neck

Trait	How often it is seen
Limited neck flexibility	Always

Abnormality of the ear

Trait	How often it is seen
Hearing impairment	Always

Abnormality of the genitourinary system

Trait	How often it is seen
Lack of bladder control due to nervous system injury	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 HSPB8 and how often each is seen. Find out more at hpo.jax.org.

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