A subjective feeling of tiredness characterized by a lack of energy and motivation.

The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset).

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).

Weakness of the peroneal muscles.

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

Reduced strength and weakness of the muscles of the arms and legs.

The limb-girdle muscular dystrophies are a group of diseases that cause muscle weakness (myopathy) and wasting (atrophy). The muscles that are most affected are those closest to the center of the body (proximal muscles), specifically the muscles of the shoulders, upper arms, hips, and thighs. Signs and symptoms may appear as early as childhood and typically worsen over time.\n\nThe severity, age of onset, and specific features of limb-girdle muscle dystrophy vary among affected individuals, even among members of the same family. \n\nIn the early stages of limb-girdle muscular dystrophy, affected individuals may have an unusual walking gait, such as waddling or walking on the balls of their feet. Walking this way for an extended period of time can cause overgrowth (hypertrophy) of the calf muscles. Affected individuals may also have difficulty running. They may need to use their arms to push themselves up from a squatting position because of their weak thigh muscles. Over time, as myopathy and atrophy worsen, people with limb-girdle muscular dystrophy may require wheelchair assistance.\n\nMuscle atrophy may cause changes in posture or in the appearance of the shoulders, back, and arms. In particular, weak shoulder muscles tend to make the shoulder blades (scapulae) "stick out" from the back, a sign known as scapular winging. Weak back muscles may also cause an affected individual to have an abnormally curved lower back (lordosis) or a spine that curves to the side (scoliosis). Some affected individuals develop joint stiffness (contractures) that can restrict movement in their hips, knees, ankles, or elbows. \n\nA weakening of the heart muscle (cardiomyopathy) occurs in some people with limb-girdle muscular dystrophy. If the weakness affects the muscles needed for breathing, affected individuals may have mild to severe breathing problems. In some cases, affected individuals need a machine to help them breathe (mechanical ventilation).\n\nIntelligence is generally not affected in people with limb-girdle muscular dystrophy. However, developmental delays and intellectual disabilities have been reported in some affected individuals who have signs and symptoms that are more severe or that appear earlier in life.

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).

Reduced strength of the distal musculature of the legs.

Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of the knee joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin.

Enlargement of the muscles of the calf due to their replacement by connective tissue or fat.

Weakness of the limb-girdle muscles (also known as the pelvic and shoulder girdles), that is, lack of strength of the muscles around the shoulders and the pelvis.

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.

Reduced strength of the distal musculature of the arms.

Atrophy of the muscles that are responsible for moving the scapula, which are the levator scapulae, the infraspinatus muscle, the teres major, the teres minor, and the supraspinatus muscle.

Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both.

Dilated cardiomyopathy is a form of heart disease in which the heart (cardiac) muscle becomes thin and enlarged (dilated). The dilation, which typically starts in the lower left chamber of the heart (left ventricle), makes it harder for the heart to pump blood to the rest of the body. \n\nDilated cardiomyopathy is called nonsyndromic dilated cardiomyopathy when it cannot be explained by other causes, such as a heart attack or damage to the valves of the heart, and is not associated with signs and symptoms that affect other parts of the body.  \n\nThe signs and symptoms of nonsyndromic dilated cardiomyopathy vary among affected individuals, even among members of the same family. The signs and symptoms typically begin in mid-adulthood, but they can occur at any time from infancy to late adulthood. Affected individuals may have a sensation of fluttering or pounding in the chest (palpitations); shortness of breath, especially when lying down or during physical activity; fatigue; and swelling of the legs and feet. Affected individuals may also have episodes of dizziness or fainting (syncope). \n\nOver time, people with nonsyndromic dilated cardiomyopathy may develop life-threatening complications, which can include abnormal heart rhythms (arrhythmias) and heart failure. Although uncommon, sudden death can occur in people with nonsyndromic dilated cardiomyopathy, even if they have no other symptoms of the condition.\n\n

Syncope is a syndrome in which loss of consciousness is of relatively sudden onset, temporary (usually less than 1 to 2 minutes), self-terminating, and of usually rapid recovery. Syncope leads to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow.

A disorder characterized by an electrocardiographic finding of an atypical cardiac rhythm resulting from a pathologic process in the cardiac ventricles.

Delay of conduction through the atrioventricular node, which is manifested as prolongation of the PR interval in the electrocardiogram (EKG). All atrial impulses reach the ventricles.

Inability of the left ventricle to perform its normal physiologic function. Failure is either due to an inability to contract the left ventricle or the inability to relax completely and fill with blood during diastole.

Conduction block in the anterior division of the left bundle branch of the bundle of His.

A diminution of the volumetric fraction of blood pumped out of the ventricle with each cardiac cycle.

A type of myocardial fibrosis characterized by excessive diffuse collagen accumulation concentrated in interstitial spaces.

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.

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

Inability to walk in a person who previous had the ability to walk.

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

The presence of an abnormal lateral curvature of the spine.

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.

Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of a finger joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin.

A chronic loss of wrist joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the wrist.

Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of the hip joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin.

A contracture of the Achilles tendon.

Reduced ability to run.

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

Generalized (diffuse, unlocalized) amyotrophy (muscle atrophy) affecting multiple muscles.

Atrophy of the peroneous muscles, peroneus longus (also known as Fibularis longus), Peroneus brevis (also known as fibularis brevis, and Peroneus tertius (also known as fibularis tertius).

A limitation in the passive range of motion of the elbow resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin.

Muscular atrophy of distal leg muscles.

Muscular atrophy in the distribution of shoulder girdle and peroneal muscles.

Muscular atrophy affecting muscles in the distal portions of the extremities.

Amyotrophy (muscular atrophy) affecting the proximal musculature.

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

A lack of strength of the proximal muscles of the legs.

A lack of strength of the proximal muscles of the arms.

Muscular atrophy involving the muscles of the upper limbs.

Muscular atrophy affecting the lower limb.

Perceived difficulty to breathe that occurs with exercise or exertion and improves with rest.

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 increased CPK level between 4X and 50X above the upper normal level.

A sensation of tightness in the neck when attempting to move it, especially after a period of inactivity. Neck stiffness often involves soreness and difficulty moving the neck, especially when trying to turn the head to the side.