Phenotypes associated with the disease Charcot-Marie-Tooth disease type 1A (ORPHA:101081):
- Hyporeflexia (HP:0001265): Reduction of neurologic reflexes such as the knee-jerk reaction. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:101081)
- 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:101081)
- 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:101081)
- Distal muscle weakness (HP:0002460): Reduced strength of the musculature of the distal extremities. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:101081)
- Distal sensory impairment (HP:0002936): An abnormal reduction in sensation in the distal portions of the extremities. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:101081)
- Skeletal muscle atrophy (HP:0003202): The presence of skeletal muscular atrophy (which is also known as amyotrophy). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:101081)
- 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:101081)
- Decreased sensory nerve conduction velocity (HP:0003448): Reduced speed of conduction of the action potential along a sensory nerve. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:101081)
- Proximal muscle weakness (HP:0003701): A lack of strength of the proximal muscles. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:101081)
- Demyelinating peripheral neuropathy (HP:0007108): Demyelinating neuropathy is characterized by slow nerve conduction velocities with reduced amplitudes of sensory/motor nerve conduction and prolonged distal latencies. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:101081)
- Sensory ataxia (HP:0010871): Incoordination of movement caused by a deficit in the sensory nervous system. Sensory ataxia can be distinguished from cerebellar ataxia by asking the patient to close his or her eyes. Persons with cerebellar ataxia show only a minimal worsening of symptoms, whereas persons with sensory ataxia show a marked worsening of symptoms. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:101081)
- Gait imbalance (HP:0002141). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:101081)
- Kyphoscoliosis (HP:0002751): An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:101081)
- 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:101081)
- Acute demyelinating polyneuropathy (HP:0007131): Acute progressive areflexic weakness and mild sensory changes resulting from myelin breakdown and axonal degeneration. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:101081)
- Calf muscle hypertrophy (HP:0008981): Muscle hypertrophy affecting the calf muscles. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:101081)
- Diaphragmatic weakness (HP:0009113): A decrease in the strength of the diaphragm. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:101081)
- Spontaneous pain sensation (HP:0010833): Spontaneous pain is a kind of neuropathic pain which occurs without an identifiable trigger. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:101081)
- Shoulder pain (HP:0030834): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the shoulder. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:101081)
- Hyperactive deep tendon reflexes (HP:0006801). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:101081)