Phenotypes associated with the disease X-linked Charcot-Marie-Tooth disease type 2 (ORPHA:101076):
- Areflexia (HP:0001284): Absence of neurologic reflexes such as the knee-jerk reaction. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:101076)
- Gait disturbance (HP:0001288): The term gait disturbance can refer to any disruption of the ability to walk. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:101076)
- Pes cavus (HP:0001761): 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). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:101076)
- Hand tremor (HP:0002378): An unintentional, oscillating to-and-fro muscle movement affecting the hand. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:101076)
- Distal sensory impairment (HP:0002936): An abnormal reduction in sensation in the distal portions of the extremities. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:101076)
- Steppage gait (HP:0003376): 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. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:101076)
- Decreased motor nerve conduction velocity (HP:0003431): A type of decreased nerve conduction velocity that affects the motor neuron. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:101076)
- EMG: chronic denervation signs (HP:0003444): Evidence of chronic denervation on electromyography. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:101076)
- Distal lower limb amyotrophy (HP:0008944): Muscular atrophy of distal leg muscles. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:101076)
- Intrinsic hand muscle atrophy (HP:0008954): Atrophy of the intrinsic muscle groups of the hand, comprising the thenar and hypothenar muscles; the interossei muscles; and the lumbrical muscles. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:101076)
- Foot dorsiflexor weakness (HP:0009027): 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. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:101076)
- Distal lower limb muscle weakness (HP:0009053): Reduced strength of the distal musculature of the legs. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:101076)
- Tibialis anterior muscle atrophy (HP:0011399): Wasting of the tibialis anterior muscle. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:101076)
- Peroneal muscle weakness (HP:0011727): Weakness of the peroneal muscles. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:101076)
- Hand muscle weakness (HP:0030237): Reduced strength of the musculature of the hand. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:101076)
- Sensorineural hearing impairment (HP:0000407): A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:101076)
- Optic disc pallor (HP:0000543): A pale yellow discoloration of the optic disc (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:101076)
- Optic neuropathy (HP:0001138). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:101076)
- Intellectual disability (HP:0001249): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:101076)
- Hyporeflexia (HP:0001265): Reduction of neurologic reflexes such as the knee-jerk reaction. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:101076)
- Hyperreflexia (HP:0001347): Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:101076)
- Spastic paraparesis (HP:0002313): Partial loss of the ability to move the lower limbs accompanied by spasticity of the lower limbs. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:101076)
- Babinski sign (HP:0003487): 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. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:101076)
- Hyperactive deep tendon reflexes (HP:0006801). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:101076)
- Slow decrease in visual acuity (HP:0007924). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:101076)
- Clasp-knife sign (HP:0031866): Clasp-knife phenomenon refers to increased muscle tone while bending or stretching a limb, whereby there is a sudden relaxation (decrease in resistance) as the muscle continues to be stretched. This phenomenon has been likened to opening a clasp knife. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:101076)