Phenotypes associated with the disease Charcot-Marie-Tooth disease type 1F (ORPHA:101085):
- Decreased nerve conduction velocity (HP:0000762): A reduction in the speed at which electrical signals propagate along the axon of a neuron. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:101085)
- Distal muscle weakness (HP:0002460): Reduced strength of the musculature of the distal extremities. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:101085)
- Skeletal muscle atrophy (HP:0003202): The presence of skeletal muscular atrophy (which is also known as amyotrophy). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:101085)
- Somatic sensory dysfunction (HP:0003474): An abnormality of the primary sensation that is mediated by peripheral nerves (pain, temperature, touch, vibration, joint position). The word hypoesthesia (or hypesthesia) refers to a reduction in cutaneous sensation to a specific type of testing. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:101085)
- Sensorimotor neuropathy (HP:0007141). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:101085)
- Demyelinating motor neuropathy (HP:0007220): Demyelination of peripheral motor nerves. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:101085)
- Demyelinating sensory neuropathy (HP:0011402): Demyelination of peripheral sensory nerves. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:101085)
- Abnormality of the hand (HP:0001155): An abnormality affecting one or both hands. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:101085)
- Motor delay (HP:0001270): A type of Developmental delay characterized by a delay in acquiring motor skills. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:101085)
- Areflexia (HP:0001284): Absence of neurologic reflexes such as the knee-jerk reaction. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:101085)
- 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:101085)
- Gait ataxia (HP:0002066): A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:101085)
- Limb ataxia (HP:0002070): A kind of ataxia that affects movements of the extremities. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:101085)
- Unsteady gait (HP:0002317). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:101085)
- Head tremor (HP:0002346): An unintentional, oscillating to-and-fro muscle movement affecting head movement. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:101085)
- Hand tremor (HP:0002378): An unintentional, oscillating to-and-fro muscle movement affecting the hand. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:101085)
- Positive Romberg sign (HP:0002403): The patient stands with the feet placed together and balance and is asked to close his or her eyes. A loss of balance upon eye closure is a positive Romberg sign and is interpreted as indicating a deficit in proprioception. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:101085)
- Impaired vibratory sensation (HP:0002495): A decrease in the ability to perceive vibration. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to bony prominences such as the malleoli at the ankles or the metacarpal-phalangeal joints. There is a slow decay of vibration from the tuning fork. The degree of vibratory sense loss can be crudely estimated by counting the number of seconds that the examiner can perceive the vibration longer than the patient. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:101085)
- 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:101085)
- Decreased number of large peripheral myelinated nerve fibers (HP:0003387): A reduced number of large myelinated nerve fibers. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:101085)
- Absent brainstem auditory responses (HP:0004463): Lack of measurable response to stimulation of auditory evoked potentials. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:101085)
- Distal upper limb amyotrophy (HP:0007149): Muscular atrophy of distal arm muscles. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:101085)
- Mixed demyelinating and axonal polyneuropathy (HP:0007327). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:101085)
- Impaired pain sensation (HP:0007328): Reduced ability to perceive painful stimuli. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:101085)
- Distal lower limb amyotrophy (HP:0008944): Muscular atrophy of distal leg muscles. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:101085)
- 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:101085)
- Distal lower limb muscle weakness (HP:0009053): Reduced strength of the distal musculature of the legs. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:101085)
- Hand muscle atrophy (HP:0009130): Muscular atrophy involving the muscles of the hand. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:101085)
- Impaired proprioception (HP:0010831): A loss or impairment of the sensation of the relative position of parts of the body and joint position. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:101085)
- Cervical spinal cord atrophy (HP:0010873): Atrophy of the cervical segment of the spinal cord. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:101085)
- Hand muscle weakness (HP:0030237): Reduced strength of the musculature of the hand. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:101085)
- Urinary incontinence (HP:0000020): Loss of the ability to control the urinary bladder leading to involuntary urination. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:101085)
- 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:101085)
- Optic nerve hypoplasia (HP:0000609): Underdevelopment of the optic nerve. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:101085)
- Hypotonia (HP:0001252): Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:101085)
- Dysarthria (HP:0001260): Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:101085)
- Fasciculations (HP:0002380): 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. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:101085)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:101085)
- Muscle spasm (HP:0003394): Sudden and involuntary contractions of one or more muscles. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:101085)
- Paresthesia (HP:0003401): Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:101085)
- Scapular winging (HP:0003691): Abnormal protrusion of the scapula away from the surface of the back. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:101085)
- Proximal lower limb amyotrophy (HP:0008956): Muscular atrophy affecting proximally located muscles of the legs, i.e., of the thigh. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:101085)
- Proximal lower limb muscle weakness (HP:0008994): A lack of strength of the proximal muscles of the legs. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:101085)
- Proximal upper limb muscle weakness (HP:0008997): A lack of strength of the proximal muscles of the arms. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:101085)
- Restless legs (HP:0012452): An irresistible urge to move the legs, usually accompanied by unpleasant sensations deep within the limbs. Symptoms typically begin or worsen during periods of rest or inactivity, are most pronounced in the evening or at night, and are temporarily relieved by movement such as walking or stretching. The disturbance often interferes with the initiation or maintenance of sleep. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:101085)
- Tongue atrophy (HP:0012473): Wasting of the tongue. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:101085)
- Flexion contracture of finger (HP:0012785): Chronic loss of joint motion in a finger due to structural changes in non-bony tissue. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:101085)
- Weakness of facial musculature (HP:0030319): Reduced strength of one or more muscles innervated by the facial nerve (the seventh cranial nerve). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:101085)
- Cognitive impairment (HP:0100543): Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:101085)
- Inability to walk (HP:0002540): Incapability to ambulate. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:101085)