From HPO
Fasciculations- MedGen UID:
- 5124
- •Concept ID:
- C0015644
- •
- Sign or Symptom
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.
Gliosis- MedGen UID:
- 4899
- •Concept ID:
- C0017639
- •
- Pathologic Function
Gliosis is the focal proliferation of glial cells in the central nervous system.
Peripheral neuropathy- MedGen UID:
- 18386
- •Concept ID:
- C0031117
- •
- Disease or Syndrome
Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course.
Tetraplegia- MedGen UID:
- 19617
- •Concept ID:
- C0034372
- •
- Disease or Syndrome
Paralysis of all four limbs, and trunk of the body below the level of an associated injury to the spinal cord. The etiology of quadriplegia is similar to that of paraplegia except that the lesion is in the cervical spinal cord rather than in the thoracic or lumbar segments of the spinal cord.
Sensory neuropathy- MedGen UID:
- 101791
- •Concept ID:
- C0151313
- •
- Disease or Syndrome
Peripheral neuropathy affecting the sensory nerves.
Areflexia- MedGen UID:
- 115943
- •Concept ID:
- C0234146
- •
- Finding
Absence of neurologic reflexes such as the knee-jerk reaction.
Hand tremor- MedGen UID:
- 68689
- •Concept ID:
- C0239842
- •
- Finding
An unintentional, oscillating to-and-fro muscle movement affecting the hand.
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.
Axonal degeneration- MedGen UID:
- 332464
- •Concept ID:
- C1837496
- •
- Finding
Degeneration of anterior horn cells- MedGen UID:
- 375215
- •Concept ID:
- C1843505
- •
- Finding
Distal sensory impairment- MedGen UID:
- 335722
- •Concept ID:
- C1847584
- •
- Finding
An abnormal reduction in sensation in the distal portions of the extremities.
Decreased number of peripheral myelinated nerve fibers- MedGen UID:
- 346872
- •Concept ID:
- C1858285
- •
- Finding
A loss of myelinated nerve fibers in the peripheral nervous system (in general, this finding can be observed on nerve biopsy).
Muscle spasm- MedGen UID:
- 52431
- •Concept ID:
- C0037763
- •
- Sign or Symptom
Sudden and involuntary contractions of one or more muscles.
Proximal muscle weakness- MedGen UID:
- 113169
- •Concept ID:
- C0221629
- •
- Finding
A lack of strength of the proximal muscles.
Proximal amyotrophy- MedGen UID:
- 342591
- •Concept ID:
- C1850794
- •
- Disease or Syndrome
Amyotrophy (muscular atrophy) affecting the proximal musculature.
Hyperglycemia- MedGen UID:
- 5689
- •Concept ID:
- C0020456
- •
- Disease or Syndrome
An increased concentration of glucose in the blood.
Hyperlipidemia- MedGen UID:
- 5692
- •Concept ID:
- C0020473
- •
- Disease or Syndrome
An elevated lipid concentration in the blood.
Mildly elevated creatine kinase- MedGen UID:
- 342469
- •Concept ID:
- C1850309
- •
- Finding
- Abnormality of metabolism/homeostasis
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system