From HPO
Exercise intolerance- MedGen UID:
- 603270
- •Concept ID:
- C0424551
- •
- Finding
A functional motor deficit where individuals whose responses to the challenges of exercise fail to achieve levels considered normal for their age and gender.
Limb muscle weakness- MedGen UID:
- 107956
- •Concept ID:
- C0587246
- •
- Finding
Reduced strength and weakness of the muscles of the arms and legs.
Gait disturbance- MedGen UID:
- 107895
- •Concept ID:
- C0575081
- •
- Finding
The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease.
Myopathy- MedGen UID:
- 10135
- •Concept ID:
- C0026848
- •
- Disease or Syndrome
A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.
Muscle stiffness- MedGen UID:
- 113151
- •Concept ID:
- C0221170
- •
- Sign or Symptom
A condition in which muscles cannot be moved quickly without accompanying pain or spasm.
Difficulty climbing stairs- MedGen UID:
- 68676
- •Concept ID:
- C0239067
- •
- Finding
Reduced ability to climb stairs.
Facial palsy- MedGen UID:
- 87660
- •Concept ID:
- C0376175
- •
- Disease or Syndrome
Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form.
Muscular atrophy- MedGen UID:
- 892680
- •Concept ID:
- C0541794
- •
- Pathologic Function
The presence of skeletal muscular atrophy (which is also known as amyotrophy).
Difficulty running- MedGen UID:
- 108251
- •Concept ID:
- C0560346
- •
- Finding
Reduced ability to run.
Neck flexor weakness- MedGen UID:
- 334801
- •Concept ID:
- C1843637
- •
- Finding
Weakness of the muscles involved in neck flexion (sternocleidomastoid, longus capitus, longus colli, and scalenus anterior).
Nemaline bodies- MedGen UID:
- 814369
- •Concept ID:
- C3808039
- •
- Finding
Nemaline rods are abnormal bodies that can occur in skeletal muscle fibers. The rods can be observed on histological analysis of muscle biopsy tissue or upon electron microscopy, where they appear either as extensions of sarcomeric Z-lines, in random array without obvious attachment to Z-lines (often in areas devoid of sarcomeres) or in large clusters localized at the sarcolemma or intermyofibrillar spaces.
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
- Constitutional symptom