Phenotypes associated with the disease Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 (ORPHA:353):
- Macroglossia (HP:0000158): Increased length and width of the tongue. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:353)
- Right ventricular hypertrophy (HP:0001667): In this case the right ventricle is more muscular than normal, causing a characteristic boot-shaped (coeur-en-sabot) appearance as seen on anterior- posterior chest x-rays. Right ventricular hypertrophy is commonly associated with any form of right ventricular outflow obstruction or pulmonary hypertension, which may in turn owe its origin to left-sided disease. The echocardiographic signs are thickening of the anterior right ventricular wall and the septum. Cavity size is usually normal, or slightly enlarged. In many cases there is associated volume overload present due to tricuspid regurgitation, in the absence of this, septal motion is normal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:353)
- Broad-based gait (HP:0002136): An abnormal gait pattern in which persons stand and walk with their feet spaced widely apart. This is often a component of cerebellar ataxia. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:353)
- Frequent falls (HP:0002359). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:353)
- Waddling gait (HP:0002515): 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. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:353)
- Lumbar hyperlordosis (HP:0002938): An abnormal accentuation of the inward curvature of the spine in the lumbar region. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:353)
- Elevated circulating creatine kinase activity (HP:0003236): The activity of creatine kinase in the blood circulation is above the upper limit of normal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:353)
- EMG: myopathic abnormalities (HP:0003458): The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:353)
- Upper limb muscle weakness (HP:0003484): Weakness of the muscles of the arms. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:353)
- Difficulty climbing stairs (HP:0003551): Reduced ability to climb stairs. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:353)
- Increased variability in muscle fiber diameter (HP:0003557): An abnormally high degree of muscle fiber size variation. This phenotypic feature can be observed upon muscle biopsy. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:353)
- Scapular winging (HP:0003691): Abnormal protrusion of the scapula away from the surface of the back. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:353)
- Calf muscle pseudohypertrophy (HP:0003707): Enlargement of the muscles of the calf due to their replacement by connective tissue or fat. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:353)
- EMG: myotonic runs (HP:0003730): Spontaneous, repetitive electrical activity demonstrated by electromyography (EMG). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:353)
- Abnormal macrophage morphology (HP:0004311): An abnormality of macrophages. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:353)
- Calf muscle hypertrophy (HP:0008981): Muscle hypertrophy affecting the calf muscles. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:353)
- Difficulty running (HP:0009046): Reduced ability to run. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:353)
- EMG: positive sharp waves (HP:0030007): These are spontaneous firing action potentials stimulated by needle movement of an injured muscle fiber. There is propagation to, but not past, the needle tip. This inhibits the display of the negative deflection of the waveform. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:353)
- EMG: myotonic discharges (HP:0100284): High frequency discharges in electromyography (EMG) that vary in amplitude and frequency, waxing and waning continuously with firing frequencies ranging from 150/second down to 20/second and producing a sound that has been referred to as a dive bomber sound. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:353)
- Increased endomysial connective tissue (HP:0100297): An increased volume of the endomysium, which is a connective tissue sheath that surrounds each muscle fiber. Together, bundles of muscle fibers form a fasciculus, surrounded by another layer of connective tissue called the perimysium. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:353)
- Long face (HP:0000276): 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). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:353)
- Achilles tendon contracture (HP:0001771): A contracture of the Achilles tendon. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:353)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:353)
- Gowers sign (HP:0003391): 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. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:353)
- Neck flexor weakness (HP:0003722): Weakness of the muscles involved in neck flexion (sternocleidomastoid, longus capitus, longus colli, and scalenus anterior). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:353)
- Left ventricular systolic dysfunction (HP:0025169): Abnormality of left ventricular contraction, often defined operationally as an ejection fraction of less than 40 percent. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:353)
- Tip-toe gait (HP:0030051): An abnormal gait pattern characterized by the failure of the heel to contact the floor at the onset of stance during gait. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:353)