HSD10 disease, neonatal type is a rare genetic disorder caused by mutations in the HSD10 gene. It is characterized by severe neurological and metabolic abnormalities, including seizures, developmental delay, hypotonia, and metabolic acidosis. It is usually diagnosed in the first few weeks of life and can be fatal if left untreated.

The symptoms of HSD10 disease, neonatal type, include:

-Seizures
-Developmental delay
-Feeding difficulties
-Growth retardation
-Hypotonia
-Lethargy
-Poor muscle tone
-Lack of coordination
-Abnormal movements
-Abnormal breathing
-Abnormal heart rate
-Abnormal reflexes
-Abnormal EEG
-Abnormal MRI
-Abnormal blood tests
-Abnormal liver function tests
-Abnormal kidney function tests
-Abnormal metabolic tests
-Abnormal eye movements
-Abnormal facial features
-Abnormal hearing tests
-Abnormal vision tests
-Abnormal skin findings
-Abnormal hair growth
-Abnormal sweat production
-Abnormal sweat electrolytes
-Abnormal sweat chloride levels
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HSD10 disease, neonatal type is caused by mutations in the HSD10 gene. This gene provides instructions for making an enzyme called 3-hydroxyacyl-CoA dehydrogenase (HADH). This enzyme is involved in the breakdown of certain fats (lipids) in the body. Mutations in the HSD10 gene reduce or eliminate the activity of the HADH enzyme, leading to a buildup of lipids in the body. This accumulation of lipids can cause a variety of symptoms, including severe neurological problems, muscle weakness, and heart and liver problems.

The treatments for HSD10 disease, neonatal type, depend on the severity of the symptoms. Treatment may include dietary changes, physical therapy, medications, and/or surgery. Dietary changes may include a low-fat diet, avoiding certain foods, and taking supplements. Physical therapy may help improve muscle strength and coordination. Medications may be prescribed to help manage symptoms such as seizures, muscle spasms, and difficulty breathing. Surgery may be necessary to correct any structural abnormalities. In some cases, a stem cell transplant may be recommended.

1. Maternal consanguinity
2. Maternal age over 35
3. Maternal history of recurrent miscarriages
4. Maternal history of preterm delivery
5. Maternal history of stillbirth
6. Maternal history of diabetes
7. Maternal history of hypertension
8. Maternal history of autoimmune disease
9. Maternal history of drug or alcohol abuse
10. Maternal history of exposure to environmental toxins
11. Maternal history of exposure to radiation
12. Maternal history of infection during pregnancy
13. Maternal history of smoking during pregnancy
14. Maternal history of poor nutrition during pregnancy
15. Maternal history of obesity during pregnancy
16. Maternal history of exposure to certain medications during pregnancy
17. Family history of HSD10 disease, neonatal type

At this time, there is no known cure for HSD10 disease, neonatal type. However, there are medications that can be used to manage the symptoms of the disease. These medications include anticonvulsants, anti-inflammatory drugs, and muscle relaxants. Additionally, physical therapy and occupational therapy can help to improve the quality of life for those affected by the disease.