Makindo Medical Notes"One small step for man, one large step for Makindo" |
|
|---|---|
| Download all this content in the Apps now Android App and Apple iPhone/Pad App | |
| MEDICAL DISCLAIMER: The contents are under continuing development and improvements and despite all efforts may contain errors of omission or fact. This is not to be used for the assessment, diagnosis, or management of patients. It should not be regarded as medical advice by healthcare workers or laypeople. It is for educational purposes only. Please adhere to your local protocols. Use the BNF for drug information. If you are unwell please seek urgent healthcare advice. If you do not accept this then please do not use the website. Makindo Ltd. |
| Disease | Key Genetic / Clinical Features |
|---|---|
| đź§ Fragile X Syndrome | FMR1 (CGG); X-linked dominant. Intellectual disability, autism, macroorchidism, facial dysmorphism. Expansion via maternal transmission. |
| 🌀 Huntington’s Disease | HTT (CAG); autosomal dominant. Chorea, psychiatric changes, dementia. Anticipation usually with paternal transmission. |
| đź’Ş Myotonic Dystrophy (DM1) | DMPK (CTG); autosomal dominant. Progressive myopathy, grip myotonia, cataracts, endocrine disorders. Expansion via maternal transmission. |
| ⚖️ Spinocerebellar Ataxia (e.g. SCA1) | ATXN1 (CAG); autosomal dominant. Progressive ataxia, dysarthria, oculomotor abnormalities. Variable parent-of-origin effect. |
| 🌏 DRPLA (Dentatorubral–pallidoluysian atrophy) | ATN1 (CAG); autosomal dominant. Ataxia, myoclonus, seizures, dementia. More severe with paternal transmission. Notably seen in Japanese population. |