ophthalmoplegia Homonymous hemianopia Micrognathia Abnormal facial shape Feeding difficulties Delayed speech and language development Myopia Infantile onset Abnormality of the skeletal system Short nose Delayed skeletal maturation Absent speech Dyschromatopsia [mendelian.co]

Twinkle mutation in an Italian family with external progressive ophthalmoplegia and parkinsonism: A case report and an update on the state of art. Neurosci. [mdpi.com]

vision, cognitive impairment and tremors. [casereports.bmj.com]

The POLG1 gene is located on the long arm of chromosome 15 (more precise localisation: 15q25). So far, 135 mutations in the POLG1 gene have been identified (The Human Gene Database, as of 09.2010). [labor-lademannbogen.de]

impairment Sensorineural hearing impairment Ptosis Cataract SOURCES: UMLS MONDO OMIM ORPHANET More info about PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4; PEOB4 Low match CHARCOT-MARIE-TOOTH DISEASE, X-LINKED [mendelian.co]

Showing of 45 30%-79% of people have these symptoms Abnormal morphology of the cerebellar cortex 0031422 Abnormal thalamic MRI signal intensity 0012696 Atrophy/Degeneration involving the spinal cord 0007344 Bilateral sensorineural hearing impairment 0008619 [rarediseases.info.nih.gov]

Impairment Noonan Syndrome Noonan Syndrome 3 Noonan Syndrome, LEOPARD Syndrome Normal Tension Glaucoma Norrie Disease Nucleoside Phosphorylase Deficiency Obesity, Hyperphagia, and Developmental Delay Obesity, Severe Obesity, Morbid, with Hypogonadism [sequencing.com]

Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89. American Journal of Human Genetics 93, 132-140. [mitomap.org]

Disease definition Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome is characterised by adult-onset severe sensory ataxic neuropathy, dysarthria and chronic progressive external ophthalmoplegia. [orpha.net]

progressive external ophthalmoplegia, which results from mitochondrial dysfunction and is due to mtDNA depletion in muscle and peripheral nerve. [link.springer.com]

Chronic progressive external ophthalmoplegia. Current Ocular Therapy. 5th ed. 2000. 208-210. Galetta F, Franzoni F, Mancuso M, Orsucci D, Tocchini L, Papi R, et al. Cardiac involvement in chronic progressive external ophthalmoplegia. [emedicine.medscape.com]

Adult Phenotypic Spectrum of Headache, Myopathy and Ischemic Stroke Associated with Mitochondrial POLG Mutation. Austin J Cerebrovasc Dis & Stroke. 2014;1(5): 1021. ISSN: 2381-9103. [austinpublishinggroup.com]

Migraine headache Migraine headaches [ more ] 0002076 Seizures Seizure 0001250 Percent of people who have these symptoms is not available through HPO Adult onset Symptoms begin in adulthood 0003581 Autosomal recessive inheritance 0000007 Cognitive impairment [rarediseases.info.nih.gov]

Spinocerebellar ataxia with epilepsy (SCAE) is a similar disorder with a higher frequency of migraine headaches and seizures ({13:Winterthun et al., 2005}). [diseaseinfosearch.org]

Initial symptoms may include stroke-like episodes, seizures, migraine headaches, and recurrent vomiting. [rarediseasesnetwork.org]

[…] can include myopathy, seizures, and hearing loss, but the common clinical feature appears to be sensory ataxia (review by Milone and Massie, 2010 ).Spinocerebellar ataxia with epilepsy (SCAE) is a similar disorder with a higher frequency of migraine headaches [mendelian.co]

Romberg sign * Depression * Dysphagia * Nystagmus * Reduced position sense * Mild cognitive impairment * Reduced vibration sense * Balance problems * Frequent falls * Muscle weakness * Gastroparesis * Weight loss * Enlarged heart * Stupor * Eye movement [checkorphan.org]

Sensory ataxia is distinguished from cerebellar ataxia by the presence of near-normal coordination when the movement is visually observed by the patient, but marked worsening of coordination when the eyes are shut, indicating a positive Romberg's sign [en.wikipedia.org]

Romberg sign 0002403 Proximal muscle weakness Weakness in muscles of upper arms and upper legs 0003701 Ptosis Drooping upper eyelid 0000508 Ragged-red muscle fibers 0003200 Sensory ataxic neuropathy 0003434 Upgaze palsy 0025331 Vestibular dysfunction [rarediseases.info.nih.gov]

romberg sign 64 65. [slideshare.net]

Romberg sign Abnormality of the cerebral white matter Progressive proximal muscle weakness Ophthalmoparesis Headache Encephalopathy EMG: myopathic abnormalities Limb ataxia Dilated cardiomyopathy Facial palsy Tics Frontal bossing Sensory ataxic neuropathy [mendelian.co]

Sensory Ataxic form of CIDP • Uncommon • Manifests as prominent numbness in the extremities, ataxia, areflexia and impaired vibration and/or joint position sense • Weakness may be mild or absent 27 28. [slideshare.net]

Other compounds: Carbon disulphide : In rubber vulcanization, distal sensorimotor loss and areflexia affecting the legs. [neuroweb.us]

Weakness in muscles of upper arms and upper legs 0003701 Ptosis Drooping upper eyelid 0000508 Ragged-red muscle fibers 0003200 Sensory ataxic neuropathy 0003434 Upgaze palsy 0025331 Vestibular dysfunction 0001751 5%-29% of people have these symptoms Areflexia [rarediseases.info.nih.gov]

[…] failure Decreased nerve conduction velocity Rhabdomyolysis Motor delay Milia X-linked recessive inheritance Reduced visual acuity Pallor Babinski sign Congenital nystagmus Cerebral atrophy Hypoplasia of the corpus callosum Hyperreflexia Kinetic tremor Areflexia [mendelian.co]

[…] malformation Cardiofaciocutaneous syndrome Carotid-Cavernous Fistula Cat-scratch disease Cataract-glaucoma Celiac disease, epilepsy and cerebral calcification syndrome Central areolar choroidal dystrophy Central precocious puberty Cerebellar ataxia - areflexia [sanfordresearch.org]

Clinical description Other common features include progressive gait unsteadiness, absent deep tendon reflexes, the presence of Romberg's sign, a decreased sense of vibration and proprioception and detection of red ragged fibres on muscle biopsy. [orpha.net]

The phenotype is largely variable: The common clinical feature appears to be sensory ataxia, and other symptoms include myopathy, seizures, hearing loss, progressive gait unsteadiness, absent deep tendon reflexes, Romberg’s sign, decreased sense of vibration [link.springer.com]