Abnormal protrusion of the scapula away from the surface of the back.

Difficulty in swallowing.

Weakness of the hip girdle and upper thigh muscles, for instance in myopathies, leads to an instability of the pelvis on standing and walking. If the muscles extending the hip joint are affected, the posture in that joint becomes flexed and lumbar lordosis increases. The patients usually have difficulties standing up from a sitting position. Due to weakness in the gluteus medius muscle, the hip on the side of the swinging leg drops with each step (referred to as Trendelenburg sign). The gait appears waddling. The patients frequently attempt to counteract the dropping of the hip on the swinging side by bending the trunk towards the side which is in the stance phase (in the German language literature this is referred to as Duchenne sign). Similar gait patterns can be caused by orthopedic conditions when the origin and the insertion site of the gluteus medius muscle are closer to each other than normal, for instance due to a posttraumatic elevation of the trochanter or pseudarthrosis of the femoral neck.

A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.

The presence of an abnormal lateral curvature of the spine.

A lack of strength of the proximal muscles.

Decreased strength of the neck musculature.

One or more flexion contractures (a bent joint that cannot be straightened actively or passively) that are present at birth.

Reduced strength of the musculature of the distal extremities.

Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature.

An abnormally high degree of muscle fiber size variation. This phenotypic feature can be observed upon muscle biopsy.

An abnormal predominance of type I muscle fibers (in general, this feature can only be observed on muscle biopsy).

Generalized muscular hypotonia (abnormally low muscle tone).

Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).

A facial appearance characteristic of myopathic conditions. The face appears expressionless with sunken cheeks, bilateral ptosis, and inability to elevate the corners of the mouth, due to muscle weakness.

The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).

Paralysis of one or more extraocular muscles that are responsible for eye movements.