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1.

Progressive sclerosing poliodystrophy

POLG-related disorders comprise a continuum of overlapping phenotypes that were clinically defined long before their molecular basis was known. These phenotypes exemplify the diversity that can result from mutation of a given gene. Most affected individuals have some, but not all, of the features of a given phenotype; nonetheless, the following nomenclature can assist the clinician in diagnosis and management. Onset of the POLG-related disorders ranges from infancy to late adulthood. Alpers-Huttenlocher syndrome (AHS), one of the most severe phenotypes, is characterized by childhood-onset progressive and ultimately severe encephalopathy with intractable epilepsy and hepatic failure. Childhood myocerebrohepatopathy spectrum (MCHS) presents between the first few months of life up to about age three years with developmental delay or dementia, lactic acidosis, and a myopathy with failure to thrive. Other findings can include liver failure, renal tubular acidosis, pancreatitis, cyclic vomiting, and hearing loss. Myoclonic epilepsy myopathy sensory ataxia (MEMSA) now describes the spectrum of disorders with epilepsy, myopathy, and ataxia without ophthalmoplegia. MEMSA now includes the disorders previously described as spinocerebellar ataxia with epilepsy (SCAE). The ataxia neuropathy spectrum (ANS) includes the phenotypes previously referred to as mitochondrial recessive ataxia syndrome (MIRAS) and sensory ataxia neuropathy dysarthria and ophthalmoplegia (SANDO). About 90% of persons in the ANS have ataxia and neuropathy as core features. Approximately two thirds develop seizures and almost one half develop ophthalmoplegia; clinical myopathy is rare. Autosomal recessive progressive external ophthalmoplegia (arPEO) is characterized by progressive weakness of the extraocular eye muscles resulting in ptosis and ophthalmoparesis (or paresis of the extraocular muscles) without associated systemic involvement; however, caution is advised because many individuals with apparently isolated arPEO at the onset develop other manifestations of POLG-related disorders over years or decades. Of note, in the ANS spectrum the neuropathy commonly precedes the onset of PEO by years to decades. Autosomal dominant progressive external ophthalmoplegia (adPEO) typically includes a generalized myopathy and often variable degrees of sensorineural hearing loss, axonal neuropathy, ataxia, depression, Parkinsonism, hypogonadism, and cataracts (in what has been called “chronic progressive external ophthalmoplegia plus,” or “CPEO+”). [from GeneReviews]

MedGen UID:
60012
Concept ID:
C0205710
Disease or Syndrome
2.

Encephalopathy

MedGen UID:
368408
Concept ID:
C1963101
Finding
3.

Unspecified encephalopathy

Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state. [from HPO]

MedGen UID:
39314
Concept ID:
C0085584
Disease or Syndrome
4.

Hyperlactatemia

Increase in blood LACTATE concentration often associated with SEPTIC SHOCK; LUNG INJURY; SEPSIS; and DRUG TOXICITY. When hyperlactatemia is associated with low body pH (acidosis) it is LACTIC ACIDOSIS. [from MeSH]

MedGen UID:
162857
Concept ID:
C0795692
Disease or Syndrome; Finding
5.

Hepatic failure

severe inability of the liver to function normally, as evidenced by severe jaundice and abnormal levels of ammonia, bilirubin, alkaline phosphatase, glutamic oxaloacetic transaminase, lactic dehydrogenase, and reversal of the albumin/globulin ratio. [from CRISP]

MedGen UID:
88444
Concept ID:
C0085605
Disease or Syndrome
6.

Fasting hypoglycemia

HYPOGLYCEMIA expressed in the postabsorptive state, after prolonged FASTING, or an overnight fast. [from MeSH]

MedGen UID:
75765
Concept ID:
C0271708
Disease or Syndrome
7.

Ketosis

Presence of elevated levels of ketone bodies in the body. [from HPO]

MedGen UID:
7206
Concept ID:
C0022638
Disease or Syndrome
8.

Hypoglycemia

Hypoglycemia means low blood glucose, or blood sugar. Your body needs glucose to have enough energy. After you eat, your blood absorbs glucose. If you eat more sugar than your body needs, your muscles, and liver store the extra. When your blood sugar begins to fall, a hormone tells your liver to release glucose. In most people, this raises blood sugar. If it doesn't, you have hypoglycemia, and your blood sugar can be dangerously low. Signs include . -Hunger. -Shakiness. -Dizziness. -Confusion. -Difficulty speaking. -Feeling anxious or weak. In people with diabetes, hypoglycemia is often a side effect of diabetes medicines. Eating or drinking something with carbohydrates can help. If it happens often, your health care provider may need to change your treatment plan. You can also have low blood sugar without having diabetes. Causes include certain medicines or diseases, hormone or enzyme deficiencies, and tumors. Laboratory tests can help find the cause. The kind of treatment depends on why you have low blood sugar. NIH: National Institute of Diabetes and Digestive and Kidney Diseases.  [from MedlinePlus]

MedGen UID:
6979
Concept ID:
C0020615
Disease or Syndrome
9.

Seizures

MedGen UID:
851405
Concept ID:
CN232558
Disease or Syndrome
10.

Fasting hypoglycemia

MedGen UID:
505471
Concept ID:
CN002854
Finding
11.

Ketosis

Presence of elevated levels of ketone bodies in the body. [from HPO]

MedGen UID:
505018
Concept ID:
CN001760
Finding
12.

Hypoglycemia

A decreased concentration of glucose in the blood. [from HPO]

MedGen UID:
505016
Concept ID:
CN001757
Finding
13.

Hepatic failure

MedGen UID:
504829
Concept ID:
CN001280
Finding
14.

Cirrhosis

A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function. [from HPO]

MedGen UID:
504826
Concept ID:
CN001275
Finding
15.

mitochondrial DNA depletion

MedGen UID:
452449
Concept ID:
C0342782
Disease or Syndrome
16.

Hepatic steatosis

The presence of steatosis in the liver. [from HPO]

MedGen UID:
427871
Concept ID:
CN001278
Finding
17.

Seizures

MedGen UID:
409523
Concept ID:
C1959629
Finding
18.

Thyroid hormone plasma membrane transport defect

MedGen UID:
396060
Concept ID:
C1861101
Disease or Syndrome
19.

Loss of developmental milestones

Loss of developmental skills, as manifested by loss of developmental milestones. [from HPO]

MedGen UID:
373115
Concept ID:
C1836550
Finding
20.

Encephalopathy, mitochondrial

MedGen UID:
342221
Concept ID:
C1852373
Disease or Syndrome
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