- Gait disturbance (HP:0001288): The term gait disturbance can refer to any disruption of the ability to walk. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:45448)
- 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:45448)
- Difficulty climbing stairs (HP:0003551): Reduced ability to climb stairs. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:45448)
- Difficulty standing (HP:0003698). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:45448)
- Quadriceps muscle weakness (HP:0003731): Weakness of the quadriceps muscle (that is, of the muscle fasciculus of quadriceps femoris). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:45448)
- Exercise-induced myalgia (HP:0003738): The occurrence of an unusually high amount of muscle pain following exercise. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:45448)
- 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:45448)
- Proximal amyotrophy (HP:0007126): Amyotrophy (muscular atrophy) affecting the proximal musculature. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:45448)
- Distal upper limb amyotrophy (HP:0007149): Muscular atrophy of distal arm muscles. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:45448)
- Distal lower limb amyotrophy (HP:0008944): Muscular atrophy of distal leg muscles. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:45448)
- Tibialis muscle weakness (HP:0008963): Muscle weakness affecting the tibialis anterior muscle. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:45448)
- Proximal lower limb muscle weakness (HP:0008994): A lack of strength of the proximal muscles of the legs. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:45448)
- Distal lower limb muscle weakness (HP:0009053): Reduced strength of the distal musculature of the legs. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:45448)
- Tibialis anterior muscle atrophy (HP:0011399): Wasting of the tibialis anterior muscle. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:45448)
- 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:45448)
- Myalgia (HP:0003326): Pain in muscle. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:45448)
- Calf muscle hypertrophy (HP:0008981): Muscle hypertrophy affecting the calf muscles. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:45448)
- Foot dorsiflexor weakness (HP:0009027): 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. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:45448)
- 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:45448)
- Triceps weakness (HP:0031108): A lack of strength in the triceps muscle, which normally is responsible for extending (straightening) the elbow and mediating certain shoulder movements. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:45448)
- Decreased/absent ankle reflexes (HP:0200101). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:45448)
These phenotypes are associated with the disease Miyoshi myopathy (ORPHA:45448).
The following phenotypes are NOT associated with this disease:
- Abnormality of the cardiovascular system (HP:0001626): Any abnormality of the cardiovascular system. Evidence: TAS. (ORPHA:45448)
- Respiratory insufficiency due to muscle weakness (HP:0002747). Evidence: TAS. (ORPHA:45448)
- Muscle stiffness (HP:0003552): A condition in which muscles cannot be moved quickly without accompanying pain or spasm. Evidence: TAS. (ORPHA:45448)
- Intrinsic hand muscle atrophy (HP:0008954): Atrophy of the intrinsic muscle groups of the hand, comprising the thenar and hypothenar muscles; the interossei muscles; and the lumbrical muscles. Evidence: TAS. (ORPHA:45448)