From HPO
Pes cavus- MedGen UID:
- 675590
- •Concept ID:
- C0728829
- •
- Congenital Abnormality
An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight).
Hyporeflexia of upper limbs- MedGen UID:
- 323007
- •Concept ID:
- C1836835
- •
- Finding
Reduced intensity of muscle tendon reflexes in the upper limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping.
Areflexia of lower limbs- MedGen UID:
- 347285
- •Concept ID:
- C1856694
- •
- Finding
Inability to elicit tendon reflexes in the lower limbs.
Foot dorsiflexor weakness- MedGen UID:
- 356163
- •Concept ID:
- C1866141
- •
- Finding
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.
Ulnar claw- MedGen UID:
- 871311
- •Concept ID:
- C4025799
- •
- Congenital Abnormality
An abnormal hand position characterized by hyperextension of the fourth and fifth fingers at the metacarpophalangeal joints and flexion of the interphalangeal joints of the same fingers such that they are curled towards the palm.
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.
Steppage gait- MedGen UID:
- 98105
- •Concept ID:
- C0427149
- •
- Finding
An abnormal gait pattern that arises from weakness of the pretibial and peroneal muscles due to a lower motor neuron lesion. Affected patients have footdrop and are unable to dorsiflex and evert the foot. The leg is lifted high on walking so that the toes clear the ground, and there may be a slapping noise when the foot strikes the ground again.
Distal sensory impairment- MedGen UID:
- 335722
- •Concept ID:
- C1847584
- •
- Finding
An abnormal reduction in sensation in the distal portions of the extremities.
Decreased motor nerve conduction velocity- MedGen UID:
- 388130
- •Concept ID:
- C1858729
- •
- Finding
A type of decreased nerve conduction velocity that affects the motor neuron.
Chronic axonal neuropathy- MedGen UID:
- 867220
- •Concept ID:
- C4021578
- •
- Disease or Syndrome
An abnormality characterized by chronic impairment of the normal functioning of the axons.
Muscle spasm- MedGen UID:
- 52431
- •Concept ID:
- C0037763
- •
- Sign or Symptom
Sudden and involuntary contractions of one or more muscles.
Distal muscle weakness- MedGen UID:
- 140883
- •Concept ID:
- C0427065
- •
- Finding
Reduced strength of the musculature of the distal extremities.
Distal lower limb amyotrophy- MedGen UID:
- 324515
- •Concept ID:
- C1836451
- •
- Disease or Syndrome
Muscular atrophy of distal leg muscles.
Upper limb amyotrophy- MedGen UID:
- 867165
- •Concept ID:
- C4021523
- •
- Disease or Syndrome
Muscular atrophy involving the muscles of the upper limbs.
Claw hand deformity- MedGen UID:
- 1814631
- •Concept ID:
- C5702555
- •
- Anatomical Abnormality
An abnormality of the hand characterized by metacarpophalangeal (MCP) hyperextension and proximal interphalangeal (PIP) and distal interphalangeal (DIP) flexion. The position of the affected hand is said to resemble a claw.
- Abnormality of limbs
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system