| syndroom van mitochondriale myopathie, cerebellaire ataxie en pigmentretinopathie (aandoening) | | syndroom van mitochondriale myopathie, cerebellaire ataxie en pigmentretinopathie | | syndroom van mitochondriële myopathie, cerebellaire atrofie en pigmentretinopathie
| | Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome | | Mitochondrial myopathy, cerebellar atrophy, pigmentary retinopathy syndrome
| | A rare mitochondrial myopathy with characteristics of motor developmental delay (in infancy), growth impairment and mostly proximal muscle weakness caused by a muscular dystrophy. Muscle biopsy presents myopathic abnormalities and decreased mitochondrial deoxyribonucleic acid (mtDNA) content. Electromyography (EMG) shows a myopathic process and serum creatine kinase is increased. The disease also has characteristics of early onset non-progressive cerebellar atrophy (particularly cerebellar vermis and hemispheres), corticospinal tract dysfunction, and global or partial cerebral atrophy on brain MRI. Additionally, some patients presented with cognitive deficiencies, skeletal abnormalities, tremors and retinopathy. Caused by biallelic mutations in the MSTO1 gene located on chromosome 1q22 with autosomal recessive inheritance. In a very few cases, the pattern of inheritance is autosomal dominant. |
| | Id | 1237514002 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 502423 |
| SNOMED CT to ICD-10 extended map | | Target | G71.3 | | Rule | TRUE | | Advice | ALWAYS G71.3 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
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