Phenotypes associated with the disease Vocal cord and pharyngeal distal myopathy (ORPHA:600):
- 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: Frequent (HP:0040282). (ORPHA:600)
- Bulbar palsy (HP:0001283): Bulbar weakness (or bulbar palsy) refers to bilateral impairment of function of the lower cranial nerves IX, X, XI and XII, which occurs due to lower motor neuron lesion either at nuclear or fascicular level in the medulla or from bilateral lesions of the lower cranial nerves outside the brain-stem. Bulbar weakness is often associated with difficulty in chewing, weakness of the facial muscles, dysarthria, palatal weakness and regurgitation of fluids, dysphagia, and dysphonia. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:600)
- Hyperreflexia (HP:0001347): Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:600)
- Abnormal calf musculature morphology (HP:0001430). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:600)
- Vocal cord paresis (HP:0001604): Decreased strength of the vocal folds. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:600)
- Hoarse voice (HP:0001609): Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:600)
- Hypernasal speech (HP:0001611): A type of speech characterized by the presence of an abnormally increased nasal airflow during speech associated with structural abnormality of the nasal passages. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:600)
- Weak voice (HP:0001621): Reduced intensity (volume) of speech. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:600)
- Dysphagia (HP:0002015): Difficulty in swallowing. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:600)
- Unsteady gait (HP:0002317). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:600)
- Distal muscle weakness (HP:0002460): Reduced strength of the musculature of the distal extremities. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:600)
- Respiratory insufficiency due to muscle weakness (HP:0002747). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:600)
- Aspiration (HP:0002835): Inspiration of a foreign object into the airway. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:600)
- EMG abnormality (HP:0003457): Abnormal results of investigations using electromyography (EMG). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:600)
- Exercise-induced myalgia (HP:0003738): The occurrence of an unusually high amount of muscle pain following exercise. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:600)
- Rimmed vacuoles (HP:0003805): Presence of abnormal vacuoles (membrane-bound organelles) in the sarcolemma. On histological staining with hematoxylin and eosin, rimmed vacuoles are popcorn-like clear vacuoles with a densely blue rim. The vacuoles are often associated with cytoplasmic and occasionally intranuclear eosinophilic inclusions. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:600)
- Imperfect vocal cord adduction (HP:0005934). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:600)
- Amyotrophic lateral sclerosis (HP:0007354). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:600)
- Mildly elevated creatine kinase (HP:0008180). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:600)
- Bowing of the vocal cords (HP:0008756): Bowing (abnormal curvature) of the vocal folds. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:600)
- Ankle weakness (HP:0031374): Reduced strength of the muscles that lift or otherwise move the foot at the ankle. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:600)
- Abnormal morphology of musculature of pharynx (HP:0430015): An abnormality of any of the muscles of the pharynx. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:600)
- Shoulder girdle muscle weakness (HP:0003547): The shoulder, or pectoral, girdle is composed of the clavicles and the scapulae. Shoulder-girdle weakness refers to lack of strength of the muscles attaching to these bones, that is, lack of strength of the muscles around the shoulders. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:600)
- Distal upper limb amyotrophy (HP:0007149): Muscular atrophy of distal arm muscles. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:600)
- Abnormality of the extraocular muscles (HP:0008049): An abnormality of an extraocular muscle. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:600)
- Dementia (HP:0000726): A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:600)
- 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 rare (HP:0040284). (ORPHA:600)
- Distal sensory impairment (HP:0002936): An abnormal reduction in sensation in the distal portions of the extremities. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:600)
- 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:600)
Not associated with this disease:
- Inflammatory myopathy (HP:0009071): Chronic muscle inflammation accompanied by muscle weakness. Evidence: TAS. (ORPHA:600)