From HPO
Limb muscle weakness- MedGen UID:
- 107956
- •Concept ID:
- C0587246
- •
- Finding
Reduced strength and weakness of the muscles of the arms and legs.
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).
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.
Tremor- MedGen UID:
- 21635
- •Concept ID:
- C0040822
- •
- Sign or Symptom
An unintentional, oscillating to-and-fro muscle movement about a joint axis.
Areflexia- MedGen UID:
- 115943
- •Concept ID:
- C0234146
- •
- Finding
Absence of neurologic reflexes such as the knee-jerk reaction.
Dysmetria- MedGen UID:
- 68583
- •Concept ID:
- C0234162
- •
- Finding
A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements.
Dysdiadochokinesis- MedGen UID:
- 115975
- •Concept ID:
- C0234979
- •
- Sign or Symptom
A type of ataxia characterized by the impairment of the ability to perform rapidly alternating movements, such as pronating and supinating his or her hand on the dorsum of the other hand as rapidly as possible.
Hyporeflexia- MedGen UID:
- 195967
- •Concept ID:
- C0700078
- •
- Finding
Reduction of neurologic reflexes such as the knee-jerk reaction.
Cerebellar atrophy- MedGen UID:
- 196624
- •Concept ID:
- C0740279
- •
- Disease or Syndrome
Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event.
Sensory axonal neuropathy- MedGen UID:
- 334116
- •Concept ID:
- C1842587
- •
- Finding
An axonal neuropathy of peripheral sensory nerves.
Progressive gait ataxia- MedGen UID:
- 375309
- •Concept ID:
- C1843885
- •
- Finding
A type of gait ataxia displaying progression of clinical severity.
Muscular atrophy- MedGen UID:
- 892680
- •Concept ID:
- C0541794
- •
- Pathologic Function
The presence of skeletal muscular atrophy (which is also known as amyotrophy).
Nystagmus- MedGen UID:
- 45166
- •Concept ID:
- C0028738
- •
- Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
- Abnormality of limbs
- Abnormality of the eye
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system