Phenotypes associated with the disease Pure mitochondrial myopathy (ORPHA:254854):
- Exercise intolerance (HP:0003546): A functional motor deficit where individuals whose responses to the challenges of exercise fail to achieve levels considered normal for their age and gender. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:254854)
- Difficulty climbing stairs (HP:0003551): Reduced ability to climb stairs. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:254854)
- Proximal muscle weakness (HP:0003701): A lack of strength of the proximal muscles. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:254854)
- Difficulty running (HP:0009046): Reduced ability to run. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:254854)
- Frequent falls (HP:0002359). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:254854)
- Distal muscle weakness (HP:0002460): Reduced strength of the musculature of the distal extremities. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:254854)
- 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:254854)
- Hyporeflexia of lower limbs (HP:0002600): Reduced intensity of muscle tendon reflexes in the lower limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:254854)
- 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: Frequent (HP:0040282). (ORPHA:254854)
- Shoulder girdle muscle weakness (HP:0003547): 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. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:254854)
- Neck flexor weakness (HP:0003722): Weakness of the muscles involved in neck flexion (sternocleidomastoid, longus capitus, longus colli, and scalenus anterior). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:254854)
- Pelvic girdle muscle weakness (HP:0003749): 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. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:254854)
- Proximal amyotrophy (HP:0007126): Amyotrophy (muscular atrophy) affecting the proximal musculature. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:254854)
- Exercise-induced muscle fatigue (HP:0009020): An abnormally increased tendency towards muscle fatigue induced by physical exercise. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:254854)
- Fatigable weakness of neck muscles (HP:0030199): A type of weakness of a skeletal muscle in the neck that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:254854)
- Progressive external ophthalmoplegia (HP:0000590): Initial bilateral ptosis followed by limitation of eye movements in all directions and slowing of saccades. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:254854)
- Dysarthria (HP:0001260): Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:254854)
- Bilateral ptosis (HP:0001488). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:254854)
- Loss of ambulation (HP:0002505): Inability to walk in a person who previous had the ability to walk. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:254854)
- Lumbar hyperlordosis (HP:0002938): An abnormal accentuation of the inward curvature of the spine in the lumbar region. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:254854)
- Myalgia (HP:0003326): Pain in muscle. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:254854)
- Axial muscle weakness (HP:0003327): Reduced strength of the axial musculature (i.e., of the muscles of the head and neck, spine, and ribs). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:254854)
- Muscle spasm (HP:0003394): Sudden and involuntary contractions of one or more muscles. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:254854)
- 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:254854)
- Fatigable weakness of bulbar muscles (HP:0030192): A type of weakness of the bulbar muscles (muscles of the mouth and throat responsible for speech and swallowing) that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:254854)
- Fatigable weakness of swallowing muscles (HP:0030195): A type of weakness of the muscles involved in swallowing that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:254854)
- Diplopia (HP:0000651): Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:254854)
- Hypotonia (HP:0001252): 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. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:254854)
- Motor delay (HP:0001270): A type of Developmental delay characterized by a delay in acquiring motor skills. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:254854)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:254854)
- Rhabdomyolysis (HP:0003201): Breakdown of muscle fibers that leads to the release of muscle fiber contents (myoglobin) into the bloodstream. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:254854)
- Recurrent myoglobinuria (HP:0003652): Recurring episodes of myoglobinuria, i.e., of the presence of myoglobin in the urine. This is usually a consequence of rhabdomyolysis, i.e., of the destruction of muscle tissue. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:254854)
- Scapular winging (HP:0003691): Abnormal protrusion of the scapula away from the surface of the back. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:254854)