oculopharyngodistal myopathy 1

Distal muscle weakness

Reduced strength of the musculature of the distal extremities....

General

Dysphagia

Difficulty in swallowing....

Digestive, Neurological

External ophthalmoplegia

Paralysis of the external ocular muscles....

Ophthalmic

Facial palsy

Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to contr...

Head and Neck, Neurological

Foot dorsiflexor weakness

Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards...

Limbs

Muscle weakness

Reduced strength of muscles....

General

Ophthalmoparesis

Ophthalmoplegia is a paralysis or weakness of one or more of the muscles that control eye movement....

Ophthalmic

Proximal muscle weakness

A lack of strength of the proximal muscles....

General

Respiratory insufficiency due to muscle weakness

Information about Respiratory insufficiency due to muscle weakness....

Respiratory

Sensorineural hearing impairment

A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve....

Otic

Tremor

An unintentional, oscillating to-and-fro muscle movement about a joint axis....

Neurological

Weight loss

Reduction of total body weight....

Growth

Brown-Vialetto-van Laere syndrome 1

Any Brown-Vialetto-van Laere syndrome in which the cause of the disease is a mutation in the SLC52A3 gene....

Mitochondrial neurogastrointestinal encephalomyopathy

Mitochondrial neurogastrointestinal encephalomyopathy is a medical condition that may be associated with vario...

Synaptic congenital myasthenic syndrome

Synaptic congenital myasthenic syndrome is a medical condition that may be associated with various symptoms an...

mitochondrial DNA depletion syndrome 6 (hepatocerebral type)

mitochondrial DNA depletion syndrome 6 (hepatocerebral type) is a medical condition that may be associated wit...

progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1

Any autosomal recessive progressive external ophthalmoplegia in which the cause of the disease is a mutation i...

sensory ataxic neuropathy, dysarthria, and ophthalmoparesis

A rare mitochondrial disease characterized by adult onset of the triad of sensory ataxic neuropathy, dysarthri...