Phenotypes associated with the disease Lambert-Eaton myasthenic syndrome (ORPHA:43393):
- Xerostomia (HP:0000217): Dryness of the mouth due to salivary gland dysfunction. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:43393)
- Diminished deep tendon reflex (HP:0001315): A reduction (hyporeflexia) or complete absence (areflexia) of the involuntary muscle contraction normally elicited by a reflex stimulus, such as tapping a deep tendon. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:43393)
- EMG: decremental response of compound muscle action potential to repetitive nerve stimulation (HP:0003403): A compound muscle action potential (CMAP) is a type of electromyography (EMG). CMAP refers to a group of almost simultaneous action potentials from several muscle fibers in the same area evoked by stimulation of the supplying motor nerve and are recorded as one multipeaked summated action potential. This abnormality refers to a greater than normal decrease in the amplitude during the course of the investigation. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:43393)
- Progressive proximal muscle weakness (HP:0009073): Lack of strength of the proximal muscles that becomes progressively more severe. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:43393)
- Abnormal autonomic nervous system physiology (HP:0012332): A functional abnormality of the autonomic nervous system. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:43393)
- EMG: repetitive nerve stimulation abnormality (HP:0030000): Abnormality observed upon electromyography when nerve studied is electrically stimulated six to ten times at 2 or 3 Hertz. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:43393)
- Calcium channel antibody positivity (HP:0030209): The presence of autoantibodies (immunoglobulins) in the serum that react against voltage-gated calcium channels. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:43393)
- Abnormality of the orbital region (HP:0000315). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:43393)
- Impotence (HP:0000802): Inability to develop or maintain an erection of the penis. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:43393)
- Constipation (HP:0002019): Infrequent or difficult evacuation of feces. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:43393)
- Bulbar signs (HP:0002483). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:43393)
- Small cell lung carcinoma (HP:0030357): Small cell lung cancer (SCLC) is a type of highly malignant lung cancer that is composed of small ovoid cells. In the past, SCLC was called oat cell carcinoma because the microscopic appearance of the cells was felt to resemble oats. SLCLC usually originates near the bronchi and in many cases may grow and metastasize quickly. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:43393)
- Anti-P/Q-type VGCC antibody positivity (HP:5000027): The presence of autoantibodies (immunoglobulins) in the blood circulation that react against P/Q-type voltage-gated calcium channels (VGCCs). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:43393)
- Hypohidrosis (HP:0000966): Abnormally diminished capacity to sweat. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:43393)
- Keratoconjunctivitis sicca (HP:0001097): Dryness of the eye related to deficiency of the tear film components (aqueous, mucin, or lipid), lid surface abnormalities, or epithelial abnormalities. Keratoconjunctivitis sicca often results in a scratchy or sandy sensation (foreign body sensation) in the eyes, and may also be associated with itching, inability to produce tears, photosensitivity, redness, pain, and difficulty in moving the eyelids. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:43393)
- Orthostatic hypotension due to autonomic dysfunction (HP:0004926). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:43393)