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

The shoulder, or pectoral, girdle is composed of the clavicles and the scapulae. Shoulder-girdle weakness refers to lack of strength of the muscles attaching to these bones, that is, lack of strength of the muscles around the shoulders.

Weakness of the muscles of the pelvic girdle (also known as the hip girdle), that is, lack of strength of the muscles around the pelvis.

An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight).

Weakness of the muscles of the legs.

Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards the shin. The foot dorsiflexors include the tibialis anterior, the extensor hallucis longus, the extensor digitorum longus, and the peroneus tertius muscles.

Asthenic habitus refers to a slender build with long limbs, an angular profile, and prominent muscles or bones.

Difficulty in swallowing.

Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.

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.

Absence of neurologic reflexes such as the knee-jerk reaction.

An abnormal gait pattern characterized by the failure of the heel to contact the floor at the onset of stance during gait.

A delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts.

Obstructive sleep apnea is a common, chronic, complex disease associated with serious cardiovascular and neuropsychologic sequelae and with substantial social and economic costs (Palmer et al., 2003).

A type of Developmental delay characterized by a delay in acquiring motor skills.

Abnormally increased curvature (anterior concavity) of the lumbar or cervical spine.

Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.

The presence of an abnormal lateral curvature of the spine.

A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum.

A lack of strength of the proximal muscles.

A phenomenon whereby patients are not able to stand up without the use of the hands owing to weakness of the proximal muscles of the lower limbs.

Reduced ability to climb stairs.

Reduced ability to walk (ambulate).

A contracture of the Achilles tendon.

Reduced strength of one or more muscles innervated by the facial nerve (the seventh cranial nerve).

The presence of skeletal muscular atrophy (which is also known as amyotrophy).

Reduced ability to run.

Weakness of the quadriceps muscle (that is, of the muscle fasciculus of quadriceps femoris).

Difficulty to maintain correct position of the head while standing or sitting.

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

Muscular hypotonia (abnormally low muscle tone) manifesting in infancy.

Nemaline rods are abnormal bodies that can occur in skeletal muscle fibers. The rods can be observed on histological analysis of muscle biopsy tissue or upon electron microscopy, where they appear either as extensions of sarcomeric Z-lines, in random array without obvious attachment to Z-lines (often in areas devoid of sarcomeres) or in large clusters localized at the sarcolemma or intermyofibrillar spaces.

Impairment of gas exchange within the lungs secondary to a disease process, neoplasm, or trauma, possibly resulting in hypoxia, hypercarbia, or both, but not requiring intubation or mechanical ventilation. Patients are normally managed with pharmaceutical therapy, supplemental oxygen, or both.

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.

Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective).