Total 20 clinical symptoms reported for Epidermolysis bullosa simplex 5B, with muscular dystrophy
Alopecia |
A noncongenital process of hair loss, which may progress to partial or complete baldness.
Synonyms:Hair loss |
Very frequent |
Aphasia |
An acquired language impairment of some or all of the abilities to produce or comprehend speech and to read or write.
Synonyms:Difficulty finding words; Losing words; Loss of words |
Very frequent |
Dysphasia |
This section is currently in development.
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Very frequent |
Echolalia |
The tendency to repeat vocalizations made by another person.
Synonyms:Echoing another person's speech; Echologia; Echophrasia |
Very frequent |
Hyperconvex fingernails |
When viewed on end (with the finger tip pointing toward the examiner's eye) the curve of the fingernail forms a tighter curve of convexity.
Synonyms:Tubular fingernails |
Very frequent |
Hypoplastic fingernail |
Underdevelopment of a fingernail.
Synonyms:Small fingernail; Underdeveloped fingernail |
Very frequent |
Muscle flaccidity |
A type of paralysis in which a muscle becomes soft and yields to passive stretching, which results from loss of all or practically all peripheral motor nerves that innervated the muscle. Muscle tone is reduced and the affected muscles undergo extreme atrophy within months of the loss of innervation.
|
Very frequent |
Mutism |
Synonyms:Inability to speak; Muteness |
Very frequent |
Myopathy |
A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.
Synonyms:Muscle tissue disease; Myopathic changes |
Very frequent |
Oculomotor nerve palsy |
Reduced ability to control the movement of the eye associated with damage to the third cranial nerve (the oculomotor nerve).
|
Very frequent |
Ophthalmoparesis |
Ophthalmoplegia is a paralysis or weakness of one or more of the muscles that control eye movement.
Synonyms:Extraocular muscle palsy; Extraocular muscle paralysis; Weakness of extraocular eye movement; Weakness of muscles controlling eye movement |
Very frequent |
Ophthalmoplegia |
Paralysis of one or more extraocular muscles that are responsible for eye movements.
Synonyms:Eye muscle paralysis; Paralysis of extraocular eye movement |
Very frequent |
Skin vesicle |
A circumscribed, fluid-containing, epidermal elevation generally considered less than 10mm in diameter at the widest point.
|
Very frequent |