Total 22 clinical symptoms reported for Proximal myopathy with extrapyramidal signs
Ataxia |
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 |
Occasional |
Microcephaly |
Head circumference below 2 standard deviations below the mean for age and gender.
Synonyms:Abnormally small cranium; Abnormally small skull; Decreased circumference of cranium; Decreased size of cranium; Decreased size of skull; Reduced head circumference; small calvarium; small cranium; Small head circumference |
Occasional |
Ophthalmoplegia |
Paralysis of one or more extraocular muscles that are responsible for eye movements.
Synonyms:Eye muscle paralysis; Paralysis of extraocular eye movement |
Occasional |
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 |
Occasional |
Peripheral axonal neuropathy |
An abnormality characterized by disruption of the normal functioning of peripheral axons.
Synonyms:Axonal neuropathy; Axonal peripheral neuropathy |
Occasional |
Ptosis |
The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).
Synonyms:Blepharoptosis; Drooping upper eyelid; Eyelid ptosis |
Occasional |