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24 patient data entries in database for clusters 2 and 2 in age group "adult". Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Age of onset | Age of patient | Age of death | Reference | | | 179 | G763R2
| G763R2
| PEO-SANDO, Onset at age 20 with proximal and distal limb muscle weakness, bilateral ptosis, dysphonia, and dysphagia. | | | 20 | n/a | n/a | Santoro et al, 2006; [view data] | | 671 | A467T2
| A467T2
| At 21 years, presented with a first generalized tonic–clonic seizure. She complained of migraine afterward and developed a convulsive status epilepticus. Visual hallucinations, jerking of the right arm with secondary generalization. She died 7 months after initial presentation. | | | 21 | 21 | 21.6 | Janssen et al, 2016; [view data] | | 665 | A467T2
| A467T2
| MELAS. Occipital headaches. left homonymous hemianopia suggestive of a stroke-like episode. right occipital infarct. Jerking movements of her left arm suggestive of epilepsia partialis continua with dystonia, which was refractory to treatment. She developed an asymptomatic axonal neuropathy, deafness and myopathic weakness. bilateral ptosis, ophthalmoparesis, a dense left homonymous hemianopia, dysarthric speech, increased tone with clawing of the left hand, and distal muscle weakness. In addition, Romberg’s test was positive and she walked with a wide-based gait. ataxic gait. axonal sensory motor neuropathy. ragged red fibres and COX-negative fibres. | | - | movement disorder (ataxia) | |
| - | demyelinating neuropathy | |
| | 24 | 31 | n/a | Rajakulendran et al, 2016; [view data] | | 664 | A467T2
| A467T2
| SANDO. Severe axonal neuropathy. COX-negative fibres, ragged red fibres. presented at the age of 20 years with diplopia and bilateral ptosis. Over the next five years he developed dysphagia, slurred speech and an unsteady gait. tingling sensation in hands, feet, leg, trunk and arms. at 44 years demonstrated bilateral ptosis and limitation of eye movements in all directions of gaze. dysarthria. Romberg’s test was positive. ataxic gait. axonal sensory peripheral neuropathy. ragged red fibres and more than 10 COX-negative fibres. | | - | movement disorder (ataxia) | |
| - | demyelinating neuropathy | |
| | 20 | 44 | n/a | Rajakulendran et al, 2016; [view data] | | 618 | A467T2
| T251I
P587L2
| diabetes mellitus 2, congestive heart failure, hypothyroidism, hypertension, depression with psychotic features and gastric bypass surgery. gait difficulties, cognitive impairment, ophthalmoplegia, resting tremor and peripheral neuropathy. Shooting pains and numbness in her lower extremities, occasional rectal incontinence. Presyncopal dizziness. Complicated diabetic retinopathy. sensory ataxia secondary to a sensorimotor polyneuropathy, chronic supranuclear ophthalmoplegia, and a resting tremor of her right hand. bilateral ptosis and marked temporal muscle wasting. Her sensory examination found loss of pinprick sensation, temperature and vibration bilaterally up to her hips. She had bilateral vibration loss at her fingertips. She had loss of proprioception at her toes. She had bilateral dysdiadochokinesia with significant ataxia on finger to nose testing. Arreflexic in her lower extremities. On cognitive testing she was found to have moderate dementia with significant deficits in registration and construction as well as ideomotor apraxia. | | - | movement disorder (ataxia) | |
| - | axonal sensorimotor polyneuropathy | |
| | 55 | 60 | n/a | Lovan et al, 2013; [view data] | | 510 | L463F2
| S511N2
| Presented with fatigue and was noted to have bilateral ptosis since the age of 46 years. He subsequently developed an unsteady gait, progressive deafness, and dysphagia. Extrapyramidal features were first noted 2 years later, at age 48 years, and they progressed until his symptoms improved after receiving ropinirole. He had a history of depression. On examination, he walked with a stooped posture and a shuffling gait with limited arm-swing, slow turning, and postural instability. He had symmetric bradykinesia but no tremor. He had an expressionless face and hypophonia with bilateral ptosis and ophthalmoplegia with relative sparing of downgaze. There were mild symmetric proximal muscle weakness, absent lower limb reflexes, and mild gait ataxia. Parkinsons. | | - | movement disorder (ataxia) | |
| | 46 | 52 | n/a | Hudson et al, 2007; [view data] | | 504 | A467T2
| A467T2
| Ataxia, ptosis, pareses, sensory neuropathy, motor neuropathy, axonal neuropathy | | - | movement disorder (ataxia) | |
| - | demyelinating neuropathy | |
| | 38 | 40 | n/a | Hanisch et al, 2014; [view data] | | 361 | A467T2
| A467T2
| CPEO, Ptosis, Peripheral neuropathy, COX-deficient fibers, presence of mitochondrial dna deletions in muscle, Severe sensory and moderate motor neuronopathy, Distal and proximal neurogenic change, | | | 41 | 44 | n/a | Lax et al, 2012a; [view data] | | 348 | A467T2
| A467T2
| ptosis, PEO, muscle weakness, fatigability, peripheral neuropathy, ataxia, lactic acidosis and diarrhea alternating with constipation, ragged-red fibers, | | - | movement disorder (ataxia) | |
| | n/a | 46 | n/a | Tang et al, 2012; [view data] | | 309 | A467T2
| A467T2
| progressive difficulty walking, hand and foot numbness, ataxia, dysarthria, ptosis, sensory ataxia, with progressive ophthalmoplegia, dysarthria, nystagmus, dysphagia. Dysarthria became evident from age 55 years, and she developed ptosis at 62 years. | | - | movement disorder (ataxia) | |
| | 42 | 62 | n/a | McHugh et al, 2010; [view data] | | 308 | A467T2
| A467T2
| progressive imbalance, hand and foot numbness, with impotence and dysarthria, progressive diplopia, bilateral ptosis with severe ophthalmoparesis in all directions and diplopia on lateral gaze. There was mild dysarthria and severe sensory ataxia, mild weakness in proximal and distal muscle groups, myopathy, multiple mtDNA deletions in muscle. | | - | movement disorder (ataxia) | |
| | 41 | 46 | n/a | McHugh et al, 2010; [view data] | | 277 | A467T2
| A467T2
| progressive bilateral ptosis, limited eye movements, lower extremities paresthesias, and unsteadiness, Multiple mtDNA deletions detected by PCR in muscle | | | 31 | 34 | n/a | Milone et al, 2011; [view data] | | 23 | P587L2
T251I
| P587L2
T251I
| PEO with myopathy, chronic bronchitis. | | | 63 | n/a | n/a | Horvath et al, 2006; [view data] | | 120 | R597W2
| A467T2
| Dementia/encephalopathy, ataxia, peripheral neuropathy, ptosis, abnormal muscle histology, abnormal muscle ultrastructure, abnormal respiratory enzyms, large mitochondrial/ proliferation, COX deficiency, ragged red fibers. 100% mtDNA copy number in blood. | | - | movement disorder (ataxia) | |
| - | abnormal muscle histology | |
| - | abnormal muscle ultrastructure | |
| | n/a | 26 | n/a | Tang et al, 2011; [view data] | | 86 | A467T2
| A467T2
| Ataxia, peripheral neuropathy, muscle weakness, easy fatigability, CPEO, abnormal EMG/NCV, ptosis, delayed gastric emptying, diarrhoea, constipation, lactic acidosis, abnormal muscle ultratstructure, ragged red fibers. 75% mtDNA copy number in blood. | | - | movement disorder (ataxia) | |
| - | delayed gastric emptying | |
| | n/a | 46 | n/a | Tang et al, 2011; [view data] | | 85 | A467T2
| A467T2
| PEO, ataxia, ataxic sensory axonal neuropathy, dysarthria, multiple mtDNA deletions. 10% COX deficient fibers, 2% RRF. | | - | movement disorder (ataxia) | |
| - | demyelinating neuropathy | |
| | 30 | n/a | n/a | Stewart et al, 2009; [view data] | | 82 | A467T2
| A467T2
| Stroke/ischaemic episodes, ataxia, seizures, myoclonic seizures, peripheral neuropathy, CPEO. 114% mtDNA copy number in blood. | | - | movement disorder (ataxia) | |
| | n/a | 40 | n/a | Tang et al, 2011; [view data] | | 81 | A467T2
| A467T2
| Onset 32 years with neuropathy, myopathy, SANDO, PEO. | | | 32 | n/a | n/a | Wong et al, 2008; [view data] | | 41 | A467T2
| T251I
P587L2
| Exercise intolerance, CPEO, retinitis pigmentosa, diabetes, limb girdle weakness. 2nd patient with cataract and myopathy | | | n/a | 51 | n/a | Blok et al, 2009; [view data] | | 40 | A467T2
| T251I
P587L2
| PEO, ptosis, proximal weakness, multiple mtDNA deletions-LPCR. 25% COX-deficient fibers | | | 45 | n/a | n/a | Stewart et al, 2009; [view data] | | 39 | P587L2
T251I
| P587L2
T251I
| Mild bilateral ptosis, PEO. | | | 41 | n/a | n/a | Stewart et al, 2009; [view data] | | 38 | T251I
P587L2
| T251I
P587L2
| PEO with myopathy | | | n/a | 56 | n/a | Horvath et al, 2006; [view data] | | 37 | T251I
P587L2
| T251I
P587L2
| PEO with myopathy | | | 62 | 70 | n/a | Horvath et al, 2006; [view data] | | 36 | M603L2
| T251I
P587L2
| PEO with ptosis, mild atrial hypertrophy. Sister had PEO. | | | 61 | 65 | n/a | Gonzalez-Vioque et al, 2006; [view data] |
1-5 pathogenic cluster assignment of mutations. Mutations displayed without a superscript number are outside of the assigned pathogenic clusters. See cluster definitions for details. Number of displayed patient cases: 24
Avg age of onset in displayed cases: 40.8
Std dev in onset in displayed cases: 13.0
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