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Results: 1 to 20 of 96

1.

Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis

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:
375302
Concept ID:
C1843851
Disease or Syndrome
2.

Ophthalmoparesis

MedGen UID:
155551
Concept ID:
C0751401
Sign or Symptom
3.

Ataxia

unable to coordinate muscle movement [from CHV]

MedGen UID:
13945
Concept ID:
C0004134
Sign or Symptom
4.

Dysarthria

A disorder characterized by slow and slurred speech resulting from an inability to coordinate the muscles used in speech. [from NCI]

MedGen UID:
8510
Concept ID:
C0013362
Mental or Behavioral Dysfunction
5.

Sensory ataxia

Incoordination of movement caused by a deficit in the sensory nervous system. Sensory ataxia can be distinguished from cerebellar ataxia by asking the patient to close his or her eyes. Persons with cerebellar ataxia show only a minimal worsening of symptoms, whereas persons with sensory ataxia show a marked worsening of symptoms. [from HPO]

MedGen UID:
506409
Concept ID:
CN116605
Finding
6.

Peripheral neuropathy

Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course. [from HPO]

MedGen UID:
506330
Concept ID:
CN008687
Finding
7.

Ataxia

Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- oder overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly). [from HPO]

MedGen UID:
504767
Concept ID:
CN001146
Finding
8.

Multiple mitochondrial DNA deletions

MedGen UID:
479006
Concept ID:
C3277376
Finding
9.

Error occurred: cannot get document summary

ID:
472353

10.

Ophthalmoparesis

MedGen UID:
463310
Concept ID:
C3151960
Finding
11.

Dysarthria

MedGen UID:
333395
Concept ID:
C1839743
Finding
12.

Mitochondrial inheritance

The distribution of mitochondria, including the mitochondrial genome, into daughter cells after mitosis or meiosis, mediated by interactions between mitochondria and the cytoskeleton. [GOC:mcc, PMID:10873824, PMID:11389764] [from GO]

MedGen UID:
165802
Concept ID:
C0887941
13.

Neuropathy

nervous system disorder [from CHV]

MedGen UID:
141046
Concept ID:
C0442874
Disease or Syndrome
14.

Sensory ataxia

MedGen UID:
66020
Concept ID:
C0240991
Sign or Symptom
15.

Dyslalia

MedGen UID:
488483
Concept ID:
C3495145
Mental or Behavioral Dysfunction
16.

Dysarthria, Guttural

MedGen UID:
295860
Concept ID:
C1563666
Sign or Symptom
17.

Branigen

MedGen UID:
219784
Concept ID:
C1257853
Pharmacologic Substance
18.

Polyradiculoneuritis

MedGen UID:
215240
Concept ID:
C0936254
Disease or Syndrome
19.

Dysglossia

MedGen UID:
199675
Concept ID:
C0751512
Sign or Symptom
20.

Inborn genetic diseases

Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero. [from MeSH]

MedGen UID:
181981
Concept ID:
C0950123
Disease or Syndrome

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