Phenotypes associated with the disease Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers (ORPHA:206546):
- 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:206546)
- 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:206546)
- Proximal muscle weakness (HP:0003701): A lack of strength of the proximal muscles. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:206546)
- Abnormality of the shoulder girdle musculature (HP:0001435): A structural or functional anomaly of the shoulder girdle, which which connects the upper limb to the axial skeleton via the sternoclavicular joint. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:206546)
- Dilated cardiomyopathy (HP:0001644): Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular dilatation and left ventricular systolic dysfunction in the absence of abnormal loading conditions (hypertension, valve disease) or coronary artery disease sufficient to cause global systolic impairment. Right ventricular dilation and dysfunction may be present but are not necessary for the diagnosis. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:206546)
- Left ventricular hypertrophy (HP:0001712): Enlargement or increased size of the heart left ventricle. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:206546)
- Inability to walk (HP:0002540): Incapability to ambulate. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:206546)
- Thoracic kyphosis (HP:0002942): Over curvature of the thoracic region, leading to a round back or if sever to a hump. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:206546)
- Thoracic scoliosis (HP:0002943). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:206546)
- Generalized muscle weakness (HP:0003324): Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:206546)
- Myalgia (HP:0003326): Pain in muscle. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:206546)
- Muscle spasm (HP:0003394): Sudden and involuntary contractions of one or more muscles. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:206546)
- Exercise-induced muscle cramps (HP:0003710): Sudden and involuntary contractions of one or more muscles brought on by physical exertion. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:206546)
- Quadriceps muscle weakness (HP:0003731): Weakness of the quadriceps muscle (that is, of the muscle fasciculus of quadriceps femoris). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:206546)
- Calf muscle hypertrophy (HP:0008981): Muscle hypertrophy affecting the calf muscles. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:206546)
- Absent muscle dystrophin expression (HP:0030097): Lack of dystrophin in muscle tissue. Immunohistochemistry reveals absent dystrophin protein in the muscle biopsy. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:206546)
- Congestive heart failure (HP:0001635): The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:206546)
- Elbow flexion contracture (HP:0002987): 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. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:206546)
Not associated with this disease:
- Fasciculations (HP:0002380): Fasciculations are observed as small, local, involuntary muscle contractions (twitching) visible under the skin. Fasciculations result from increased irritability of an axon (which in turn is often a manifestation of disease of a motor neuron). This leads to sporadic discharges of all the muscle fibers controlled by the axon in isolation from other motor units. Evidence: TAS. (ORPHA:206546)
- Distal sensory impairment of all modalities (HP:0003409): Reduced ability to sense pain, temperature, touch, vibration stimuli in the distal regions of the extremities. Evidence: TAS. (ORPHA:206546)