From HPO
Hand muscle weakness- MedGen UID:
- 66798
- •Concept ID:
- C0239831
- •
- Finding
Reduced strength of the musculature of the hand.
Peroneal muscle weakness- MedGen UID:
- 488803
- •Concept ID:
- C0240733
- •
- Finding
Weakness of the peroneal muscles.
Shoulder girdle muscle weakness- MedGen UID:
- 96533
- •Concept ID:
- C0427063
- •
- Finding
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.
Pelvic girdle muscle weakness- MedGen UID:
- 96534
- •Concept ID:
- C0427064
- •
- Finding
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.
Limb-girdle muscle weakness- MedGen UID:
- 347625
- •Concept ID:
- C1858127
- •
- Finding
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.
Pelvic girdle amyotrophy- MedGen UID:
- 867170
- •Concept ID:
- C4021528
- •
- Disease or Syndrome
Atrophy of the muscles of the pelvic girdle (also known as hip girdle), i.e., the gluteal muscles, the lateral rotators, the adductors, the psoas major and the iliacus muscle.
Muscle fibrillation- MedGen UID:
- 65418
- •Concept ID:
- C0231531
- •
- Finding
Fine, rapid twitching of individual muscle fibers with little or no movement of the muscle as a whole. If a motor neuron or its axon is destroyed, the muscle fibers it innervates undergo denervation atrophy. This leads to hypersensitivity of individual muscle fibers to acetyl choline so that they may contract spontaneously. Isolated activity of individual muscle fibers is generally so fine it cannot be seen through the intact skin, although it can be recorded as a short-duration spike in the EMG.
Difficulty walking- MedGen UID:
- 86319
- •Concept ID:
- C0311394
- •
- Finding
Reduced ability to walk (ambulate).
Distal muscle weakness- MedGen UID:
- 140883
- •Concept ID:
- C0427065
- •
- Finding
Reduced strength of the musculature of the distal extremities.
Muscle fiber inclusion bodies- MedGen UID:
- 867769
- •Concept ID:
- C4022159
- •
- Finding
Muscle fiber polyglucosan inclusion bodies- MedGen UID:
- 1841936
- •Concept ID:
- C5826649
- •
- Finding
Accumulation of a poorly branched and poorly spherical amylopectin-like glycogen (polyglucosan) in muscle fibers.
Elevated circulating creatine kinase concentration- MedGen UID:
- 69128
- •Concept ID:
- C0241005
- •
- Finding
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.
- Abnormality of limbs
- Abnormality of metabolism/homeostasis
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system