T8993C-F4

**Figure 1\. Pedigree diagram for family T8993C\-F4\.**

![](/media/202606/T8993C-F4-pedigree_20260630235403026994.png#size=100%&align=left)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 8993 | m.8993T\>C | T8993C\-F4 | Finnish | Adult\-onset ataxia and axonal polyneuropathy | 2 | 3 | 2005 | [16049925](https://pubmed.ncbi.nlm.nih.gov/16049925/) |  |

The **m.8993T\>C** variant in MT\-ATP6 was reported in family T8993C\-F4 from Finnish with adult\-onset ataxia and axonal polyneuropathy. The pedigree record reported 2 unaffected and 3 affected maternal relatives, and the carrier table includes 6 listed carriers. Homoplasmy was reported in 0/6 listed carriers; 4/6 carriers were affected, and the main clinical manifestation among affected carriers was adult\-onset axonal sensorimotor polyneuropathy, gait difficulty, mild ataxia, adult\-onset ataxia, dysarthria, axonal sensorimotor neuropathy, seizures, drop attacks.

# Carrier Information

| **No.** | **Position** | **Variant** | **Family ID** | **Carrier ID** | **Type (Fam/De novo/Uninf)** | **Gender (F/M)** | **Proband (Y/N)** | **Affected (Y/N)** | **Die/Alive(D/A)** | **Age** | **Blood Mutant Level** | **Muscle Mutant level** | **Urine Mutant level** | **Other Mutant level** | **Clinical Features** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 8993 | m.8993T\>C | T8993C\-F4 | T8993C\-F4\-II6 | Fam | F | N | N | A | 89 y | 59% | / | / | / | Healthy; no neuromuscular symptoms reported |  |
| 2 | 8993 | m.8993T\>C | T8993C\-F4 | T8993C\-F4\-III1 | Fam | F | N | N | A | 35 | 28% | / | / | / | Multiple sclerosis diagnosis; low heteroplasmy considered independent cause |  |
| 3 | 8993 | m.8993T\>C | T8993C\-F4 | T8993C\-F4\-III3 | Fam | M | N | Y | A | 65 y | 79% | / | / | / | Adult\-onset axonal sensorimotor polyneuropathy, gait difficulty, mild ataxia |  |
| 4 | 8993 | m.8993T\>C | T8993C\-F4 | T8993C\-F4\-III5 | Fam | M | N | Y | A | 58 y | 64% | / | / | / | Adult\-onset ataxia, dysarthria, axonal sensorimotor neuropathy |  |
| 5 | 8993 | m.8993T\>C | T8993C\-F4 | T8993C\-F4\-III6 | Fam | F | Y | Y | A | 52 y | 89% | / | / | / | Adult\-onset ataxia, seizures/drop attacks, axonal sensorimotor polyneuropathy, mild muscle weakness |  |
| 6 | 8993 | m.8993T\>C | T8993C\-F4 | T8993C\-F4\-III4 | Fam | F | N | Y | D | 22 y | / | / | / | / | Early\-onset ataxic gait; limb dysmetria; high\-arched feet; reduced lower\-limb strength; moderate mental impairment; seizures; lethargy/coma; autopsy compatible with Friedreich's ataxia |  |

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