Involuntary fecal soiling in adults and children who have usually already been toilet trained.

Loss of the ability to control the urinary bladder leading to involuntary urination.

Pain in muscle.

Nocturnal enuresis, or nightly bedwetting in children more than 7 years of age, affects about 10% of 7-year-old children, with a wide range of frequencies between populations. The affliction is often linked to major social maladjustments and occupies considerable time in general medical practice. From the age of 7, there is a spontaneous cure rate of 15% per year, such that few remain affected after the age of 16 years. There are 2 types of nocturnal enuresis: type I, the primary form (PNE), with at least 3 nightly episodes in children older than 7 years, where the child has always had the disorder, and type II, or secondary type, where the child has been dry for at least 6 months but enuresis has recurred (summary by Eiberg et al., 1995). Genetic Heterogeneity of Nocturnal Enuresis ENUR1 has been mapped to chromosome 13q, and ENUR2 has been mapped to chromosome 12q.

Clubfoot is a congenital limb deformity defined as fixation of the foot in cavus, adductus, varus, and equinus (i.e., inclined inwards, axially rotated outwards, and pointing downwards) with concomitant soft tissue abnormalities (Cardy et al., 2007). Clubfoot may occur in isolation or as part of a syndrome (e.g., diastrophic dysplasia, 222600). Clubfoot has been reported with deficiency of long bones and mirror-image polydactyly (Gurnett et al., 2008; Klopocki et al., 2012).

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 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.

Difficulty in swallowing.

Atypical behavior is an abnormality in a person's actions that can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will.

A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.

The term gait disturbance can refer to any disruption of the ability to walk.

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

The presence of an abnormal lateral curvature of the spine.

Reduced strength of muscles.

A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.

Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form.

Chronic reduction in active and passive mobility of the shoulder joint due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement.

An elbow contracture that limits the ability of the elbow joint to be extended (straightened), meaning that the elbow is fixed in an flexed (bent) position.

A contracture of the Achilles tendon.

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

Over curvature of the thoracic region, leading to a round back or if sever to a hump.

An abnormal accentuation of the inward curvature of the spine in the lumbar region.

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

Reduced ability to move the vertebral column with a resulting limitation of neck and trunk flexion.

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

Streaming or smearing of the Z band, which is then no longer confined to a narrow zone which bisects the I band. The Z disk may extend across the I band or the entire sarcomere in a zigzag manner. Focal thickening, smudging, and blurring of the Z band takes place concurrently. Myofibrillar disorganization is a frequent but not invariable accompanying change.

Limitation of the extension of the hip, i.e., decreased ability to straighten the hip joint and thereby increase the angle between torso and thigh; moving the thigh or top of the pelvis backward.

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.

Abnormally increased width of the Z-disk of the sarcomere, resulting from splitting or opening of the Z-disc (c.f., Figure 2 of PMID:28732005).

An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.

An elevated level of the enzyme lactate dehydrogenase in the blood circulation.

Wasting of the tongue.