From HPO
Absent patellar reflexes- MedGen UID:
- 643630
- •Concept ID:
- C0558844
- •
- Finding
Absence of the knee jerk reflex, which can normally be elicited by tapping the patellar tendon with a reflex hammer just below the patella.
Absent Achilles reflex- MedGen UID:
- 108240
- •Concept ID:
- C0558845
- •
- Finding
Absence of the Achilles reflex (also known as the ankle jerk reflex), which can normally be elicited by tapping the tendon is tapped while the foot is dorsiflexed.
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).
Hammertoe- MedGen UID:
- 209712
- •Concept ID:
- C1136179
- •
- Anatomical Abnormality
Hyperextension of the metatarsal-phalangeal joint with hyperflexion of the proximal interphalangeal (PIP) joint.
Distal lower limb muscle weakness- MedGen UID:
- 324514
- •Concept ID:
- C1836450
- •
- Finding
Reduced strength of the distal musculature of the legs.
Babinski sign- MedGen UID:
- 19708
- •Concept ID:
- C0034935
- •
- Finding
Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract.
Hand tremor- MedGen UID:
- 68689
- •Concept ID:
- C0239842
- •
- Finding
An unintentional, oscillating to-and-fro muscle movement affecting the hand.
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.
Peripheral demyelination- MedGen UID:
- 451074
- •Concept ID:
- C0878575
- •
- Pathologic Function
A loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system.
Impaired pain sensation- MedGen UID:
- 373348
- •Concept ID:
- C1837522
- •
- Finding
Reduced ability to perceive painful stimuli.
Distal sensory impairment- MedGen UID:
- 335722
- •Concept ID:
- C1847584
- •
- Finding
An abnormal reduction in sensation in the distal portions of the extremities.
Onion bulb formation- MedGen UID:
- 376237
- •Concept ID:
- C1847906
- •
- Finding
Repeated episodes of segmental demyelination and remyelination lead to the accumulation of supernumerary Schwann cells around axons, which is referred to as onion bulb formation. This finding affects peripheral nerves.
Impaired distal vibration sensation- MedGen UID:
- 381262
- •Concept ID:
- C1853767
- •
- Finding
A decrease in the ability to perceive vibration in the distal portions of the limbs.
Decreased compound muscle action potential amplitude- MedGen UID:
- 908357
- •Concept ID:
- C4230625
- •
- Finding
Reduced level of the compound muscle action potential (CMAP), which is recorded following electrical stimulation of a nerve from surface electrodes overlying a muscle supplied by that nerve.
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.
Frequent falls- MedGen UID:
- 163408
- •Concept ID:
- C0850703
- •
- Finding
Distal amyotrophy- MedGen UID:
- 338530
- •Concept ID:
- C1848736
- •
- Disease or Syndrome
Muscular atrophy affecting muscles in the distal portions of the extremities.
Fatty replacement of skeletal muscle- MedGen UID:
- 866735
- •Concept ID:
- C4021082
- •
- Finding
Muscle fibers degeneration resulting in fatty replacement of skeletal muscle fibers
- Abnormality of limbs
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system