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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 GTR]

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

Chains, Respiratory

MedGen UID:
57891
Concept ID:
C0162362
Molecular Function
3.

A 17

MedGen UID:
25639
Concept ID:
C0050288
Organic Chemical; Pharmacologic Substance
4.

Seizure Disorders

A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions. [from NCI]

MedGen UID:
4506
Concept ID:
C0014544
Disease or Syndrome
5.

Abnormality of the liver

An abnormality of the liver. [from HPO]

MedGen UID:
893061
Concept ID:
C4021780
Anatomical Abnormality
6.

Usually

A response indicating that something happens or happened most of the time. [from NCI]

MedGen UID:
854883
Concept ID:
C3888388
Finding
7.

Thyroid hormone plasma membrane transport defect

MedGen UID:
396060
Concept ID:
C1861101
Disease or Syndrome
8.

intractable epilepsy

Epilepsy that is refractory to treatment. [from NCI]

MedGen UID:
203330
Concept ID:
C1096063
Disease or Syndrome
9.

Seizures

Clinical or subclinical disturbances of cortical function due to a sudden, abnormal, excessive, and disorganized discharge of brain cells. Clinical manifestations include abnormal motor, sensory and psychic phenomena. Recurrent seizures are usually referred to as EPILEPSY or "seizure disorder." [from MeSH]

MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
10.

Abnormality of the liver

A non-neoplastic or neoplastic disorder that affects the liver parenchyma and intrahepatic bile ducts. Representative examples of non-neoplastic disorders include hepatitis, cirrhosis, cholangitis, and polycystic liver disease. Representative examples of neoplastic disorders include hepatocellular adenoma, hepatocellular carcinoma, intrahepatic cholangiocarcinoma, lymphoma, and angiosarcoma. [from NCI]

MedGen UID:
9792
Concept ID:
C0023895
Disease or Syndrome
11.

Convulsion

MedGen UID:
885903
Concept ID:
C4048158
Sign or Symptom
12.

Metabolic Networks and Pathways

Complex sets of enzymatic reactions connected to each other via their product and substrate metabolites. [from MeSH]

MedGen UID:
328456
Concept ID:
C1721099
Molecular Function
13.

Demyelinating Autoimmune Diseases, CNS

Conditions characterized by loss or dysfunction of myelin (see MYELIN SHEATH) in the brain, spinal cord, or optic nerves secondary to autoimmune mediated processes. This may take the form of a humoral or cellular immune response directed toward myelin or OLIGODENDROGLIA associated autoantigens. [from MeSH]

MedGen UID:
199756
Concept ID:
C0751873
Disease or Syndrome
14.

Focal seizures

A transitory alteration in movement, sensation or autonomic nerve function due to abnormal electric activity in a localized area of the cerebral cortex, usually without change in awareness or alertness. Symptoms vary with different lesion locations and may include but not limited to the motor (e.g. rhythmic muscle contractions in one area of the body), somatosensory and sensory alterations manifested by abnormal numbness, paresthesias or other hallucinations, including several types of aura; autonomic and psychic symptoms, e.g. with changes in speech, thought, personality, mood, sensation of deja vu or hallucinations. [from NCI]

MedGen UID:
199670
Concept ID:
C0751495
Sign or Symptom
15.

Autoimmune Nervous System Disorder

A disorder characterized by the degeneration of the nervous system due to autoimmunity. Representative examples include multiple sclerosis, Guillain-Barre syndrome, and myasthenia gravis. [from NCI]

MedGen UID:
155946
Concept ID:
C0751871
Disease or Syndrome
16.

Seizures, Sensory

MedGen UID:
155571
Concept ID:
C0751496
Sign or Symptom
17.

Convulsion, Non-Epileptic

MedGen UID:
148227
Concept ID:
C0751056
Sign or Symptom
18.

Generalized tonic-clonic seizures

A generalized tonic-clinic seizure, characterized by loss of consciousness. This type of seizure may be preceded by an aura and is frequently followed by a period of confusion and lethargy (post-ictal state). [from NCI]

MedGen UID:
141670
Concept ID:
C0494475
Disease or Syndrome; Finding
19.

Olfactory seizure

MedGen UID:
140831
Concept ID:
C0422853
Disease or Syndrome
20.

Somatosensory seizure

MedGen UID:
140830
Concept ID:
C0422850
Pathologic Function
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