Total 32 clinical symptoms reported for Pelizaeus-Merzbacher disease
| Abnormality of movement |
An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements.
Synonyms:Abnormality of movement; Movement disorder; Unusual movement |
Very frequent |
| Ataxia |
Ataxia refers to impaired coordination of voluntary muscle movement. Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
Synonyms:Cerebellar ataxia |
Very frequent |
| Atypical behavior |
Atypical behavior is an abnormality in a person's actions that can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will.
Synonyms:Behavioral abnormality; Behavioral changes; Behavioral disorders; Behavioral disturbances; Behavioral problems; Behavioral symptoms; Behavioral/psychiatric abnormalities; Behavioural symptoms; Behavioural/Psychiatric abnormality; Psychiatric disorders; Psychiatric disturbances |
Very frequent |
| Cachexia |
Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic disease.
Synonyms:Wasting syndrome |
Very frequent |
| Cerebral cortical atrophy |
Atrophy of the cortex of the cerebrum.
Synonyms:Cerebral cortex atrophy; Cortical atrophy; Decrease in size of the outer layer of the brain due to loss of brain cells |
Very frequent |
| Developmental regression |
Loss of developmental skills, as manifested by loss of developmental milestones.
Synonyms:Loss of acquired milestones; Loss of developmental milestones; Loss of milestones; Mental deterioration in childhood; Neurodevelopmental regression; Psychomotor regression; Psychomotor regression beginning in infancy; Psychomotor regression in infants; Psychomotor regression, progressive |
Very frequent |
| Failure to thrive in infancy |
Synonyms:Failure to thrive in first year of life; Faltering weight in infancy; Weight faltering in infancy |
Very frequent |
| Gait disturbance |
The term gait disturbance can refer to any disruption of the ability to walk.
Synonyms:Abnormal gait; Abnormal walk; Difficulty in walking; Gait abnormalities; Gait difficulties; Gait disturbances; Impaired gait; Walking disability |
Very frequent |
| Hypotonia |
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.
Synonyms:Low muscle tone; Low or weak muscle tone; Muscle hypotonia; Muscular hypotonia |
Very frequent |
| Joint stiffness |
Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time.
Synonyms:Joint stiffness; Stiff joint; Stiff joints |
Very frequent |
| Kyphosis |
Exaggerated anterior convexity of the thoracic vertebral column.
Synonyms:Gibbus deformity; Hunched back; Hyperkyphosis; Round back |
Very frequent |
| Nystagmus |
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
Synonyms:Involuntary, rapid, rhythmic eye movements |
Very frequent |
| Optic atrophy |
Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.
Synonyms:Optic nerve atrophy; Optic-nerve degeneration |
Very frequent |
| Premature birth |
The birth of a baby of less than 37 weeks of gestational age.
Synonyms:Premature birth; Premature delivery; Premature delivery of affected infants; Preterm birth; Preterm delivery; Shortened gestation time |
Very frequent |
| Scoliosis |
The presence of an abnormal lateral curvature of the spine.
|
Very frequent |
| Spasticity |
A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.
Synonyms:Involuntary muscle stiffness, contraction, or spasm; Muscle spasticity; Muscular spasticity |
Very frequent |
| Visual impairment |
Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.
Synonyms:Impaired vision; Loss of eyesight; Poor vision; Visual impairment |
Very frequent |