Peripheral neuropathy, and Visual impairment

Diseases related with Peripheral neuropathy and Visual impairment

In the following list you will find some of the most common rare diseases related to Peripheral neuropathy and Visual impairment that can help you solving undiagnosed cases.


Top matches:

Low match AUTOSOMAL DOMINANT OPTIC ATROPHY PLUS SYNDROME


Autosomal dominant optic atrophy plus syndrome (ADOA plus) is a variant of autosomal dominant optic atrophy (ADOA; see this term) associating the typical optic atrophy with other extra-ocular manifestations such as sensorineural deafness, myopathy, chronic progressive external ophthalmoplegia, ataxia and peripheral neuropathy. More rarely, other manifestations have been associated with this condition, such as spastic paraplegia, multiple-sclerosis like illness.

AUTOSOMAL DOMINANT OPTIC ATROPHY PLUS SYNDROME Is also known as doa+|optic atrophy-deafness-polyneuropathy-myopathy syndrome

Related symptoms:

  • Strabismus
  • Sensorineural hearing impairment
  • Visual impairment
  • Optic atrophy
  • Reduced tendon reflexes


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT OPTIC ATROPHY PLUS SYNDROME

Low match OPTIC ATROPHY 9; OPA9


Related symptoms:

  • Peripheral neuropathy
  • Optic atrophy
  • Reduced visual acuity
  • Pallor
  • Scotoma


SOURCES: OMIM MENDELIAN

More info about OPTIC ATROPHY 9; OPA9

Low match GLAUCOMA, PRIMARY OPEN ANGLE; POAG


Quigley (1993) reviewed adult-onset primary open angle glaucoma, which combines a particular abnormal appearance of the optic disc (optic nerve head) with a slowly progressive loss of visual sensitivity. Many patients with glaucoma have intraocular pressures above the normal range, although this cannot be considered part of the definition of the disease, since some patients have normal intraocular pressures. Changes in the optic disc, either inherited or acquired, contribute to the development of the disorder, which leads to visual loss from increasing nerve fiber layer atrophy. Quigley et al. (1994) stated that POAG should be reviewed as a multifactorial disorder. Genetic Heterogeneity of Primary Open Angle GlaucomaOther forms of primary open angle glaucoma include GLC1A (OMIM ), caused by mutation in the MYOC gene (OMIM ) on chromosome 1q24.3-q25.2; GLC1B (OMIM ) on chromosome 2cen-q13; GLC1C (OMIM ) on chromosome 3q21-q24; GLC1D (OMIM ) on chromosome 8q23; GLC1F (OMIM ), caused by mutation in the ASB10 gene on chromosome 7q36; GLC1G (OMIM ), caused by mutation in the WDR36 gene (OMIM ) on chromosome 5q22; GLC1H (OMIM ) on chromosome 2p16-p15; GLC1I (OMIM ) on chromosome 15q11-q13; GLC1J (OMIM ) on chromosome 9q22; GLC1K (OMIM ) on chromosome 20p12; GLC1L (see {137750}) on chromosome 3p22-p21; GLC1M (OMIM ) on chromosome 5q22; GLC1N (OMIM ) on chromosome 15q22-q24; GLC1O (OMIM ), caused by mutation in the NTF4 gene (OMIM ) on chromosome 19q13.3; GLC1P (OMIM ), caused by an approximately 300-kb duplication on chromosome 12q24, most likely involving the TBK1 gene (OMIM ).Nail-patella syndrome (NPS ), which is caused by mutation in the LMX1B gene (OMIM ) on chromosome 9q34, has open angle glaucoma as a pleiotropic feature. Other Forms of GlaucomaFor a general description and a discussion of genetic heterogeneity of congenital forms of glaucoma, see GLC3A (OMIM ).See {606657} for a discussion of normal tension glaucoma (NTG) or normal pressure glaucoma (NPG), a subtype of POAG.

Related symptoms:

  • Hypertension
  • Peripheral neuropathy
  • Myopia
  • Optic atrophy
  • Blindness


SOURCES: OMIM MENDELIAN

More info about GLAUCOMA, PRIMARY OPEN ANGLE; POAG

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Other less relevant matches:

Low match NONARTERITIC ANTERIOR ISCHEMIC OPTIC NEUROPATHY, SUSCEPTIBILITY TO


NONARTERITIC ANTERIOR ISCHEMIC OPTIC NEUROPATHY, SUSCEPTIBILITY TO Is also known as naion, susceptibility to|optic neuropathy, anterior ischemic, susceptibility to

Related symptoms:

  • Peripheral neuropathy
  • Visual loss
  • Apnea
  • Hypercholesterolemia
  • Sleep apnea


SOURCES: OMIM MENDELIAN

More info about NONARTERITIC ANTERIOR ISCHEMIC OPTIC NEUROPATHY, SUSCEPTIBILITY TO

Low match AUDITORY NEUROPATHY AND OPTIC ATROPHY; ANOA


ANOA is an autosomal recessive neurologic disorder characterized by onset of visual and hearing impairment in the first or second decades (summary by Paul et al., 2017).

Related symptoms:

  • Hearing impairment
  • Nystagmus
  • Delayed speech and language development
  • Visual impairment
  • Peripheral neuropathy


SOURCES: OMIM MENDELIAN

More info about AUDITORY NEUROPATHY AND OPTIC ATROPHY; ANOA

Low match JUVENILE GLAUCOMA


Juvenile glaucoma (JG) is a rare autosomal dominant open angle glaucoma, characterized by early onset, severe elevation of intra ocular pressure of rapid progression, leading to optic nerve excavation and, when untreated, substantial visual impairment.

JUVENILE GLAUCOMA Is also known as glaucoma, primary open angle, juvenile-onset, 1|joag1

Related symptoms:

  • Hypertension
  • Peripheral neuropathy
  • Myopia
  • Blindness
  • Visual loss


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about JUVENILE GLAUCOMA

Low match EARLY-ONSET X-LINKED OPTIC ATROPHY


Early-onset X-linked optic atrophy is a rare form of hereditary optic atrophy, seen in only 4 families to date, with an onset in early childhood, characterized by progressive loss of visual acuity, significant optic nerve pallor and occasionally additional neurological manifestations, with females being unaffected.

EARLY-ONSET X-LINKED OPTIC ATROPHY Is also known as optic atrophy, non-leber type, with early onset|optic atrophy type 2|opa2|non-leber type optic atrophy with early-onset|optic atrophy, x-linked

Related symptoms:

  • Intellectual disability
  • Peripheral neuropathy
  • Dysarthria
  • Optic atrophy
  • Tremor


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about EARLY-ONSET X-LINKED OPTIC ATROPHY

Low match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 57


Autosomal recessive spastic paraplegia type 57 (SPG57) is an extremely rare, complex type of hereditary spastic paraplegia, characterized by onset in infancy of pronounced leg spasticity (leading to the inability to walk independently), reduced visual acuity due to optic atrophy, and distal wasting of the hands and feet due to an axonal demyelinating sensorimotor neuropathy. SPG57 is caused by mutations in the TFG gene (3q12.2) encoding protein TFG, which is thought to play a role in ER microtubular architecture and function.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 57 Is also known as spastic paraplegia due to partial tfg deficiency|spg57

Related symptoms:

  • Intellectual disability
  • Spasticity
  • Peripheral neuropathy
  • Hyperreflexia
  • Optic atrophy


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 57

Low match LEUKOENCEPHALOPATHY WITH MILD CEREBELLAR ATAXIA AND WHITE MATTER EDEMA


Leukoencephalopathy with ataxia is an autosomal recessive neurologic disorder with a characteristic pattern of white matter abnormalities on brain MRI. Affected individuals have prominent signal abnormalities and decreased apparent diffusion coefficient (ADC) values in the posterior limbs of the internal capsules, middle cerebral peduncles, pyramidal tracts in the pons, and middle cerebellar peduncles. The findings suggest myelin microvacuolation restricted to certain brain regions. Clinical features include ataxia and unstable gait; more variable abnormalities may include visual field defects, headaches, and learning disabilities (summary by Depienne et al., 2013).

Related symptoms:

  • Seizures
  • Ataxia
  • Spasticity
  • Peripheral neuropathy
  • Headache


SOURCES: ORPHANET OMIM MENDELIAN

More info about LEUKOENCEPHALOPATHY WITH MILD CEREBELLAR ATAXIA AND WHITE MATTER EDEMA

Top 5 symptoms//phenotypes associated to Peripheral neuropathy and Visual impairment

Symptoms // Phenotype % cases
Optic atrophy Common - Between 50% and 80% cases
Optic neuropathy Common - Between 50% and 80% cases
Pallor Uncommon - Between 30% and 50% cases
Visual loss Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Peripheral neuropathy and Visual impairment. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Reduced visual acuity Glaucoma

Rare Symptoms - Less than 30% cases


Myopia Ataxia Seizures Spasticity Optic disc pallor Nystagmus Babinski sign Blindness Open angle glaucoma Hypertension Inability to walk Progressive visual loss Dysdiadochokinesis Abnormality of mitochondrial metabolism Abnormal retinal morphology Absent Achilles reflex Hyperactive patellar reflex Visual field defect Hyperreflexia Spastic paraplegia CNS hypomyelination Paraplegia Sensory impairment Headache Schizophrenia Sensorimotor neuropathy Difficulty climbing stairs Distal lower limb amyotrophy Abnormality of peripheral nerve conduction Motor polyneuropathy Abnormal myelination Difficulty standing Leukoencephalopathy Abnormality of the Achilles tendon Limb ataxia Abnormality of the cerebral white matter Gait ataxia Abnormality of the nervous system Strabismus Tremor Drusen Reduced tendon reflexes Decreased nerve conduction velocity Abnormality of color vision Impaired pain sensation Abnormality of visual evoked potentials Scotoma Dyschromatopsia Red-green dyschromatopsia Paracentral scotoma High myopia Apnea Hypercholesterolemia Sleep apnea Nonarteritic anterior ischemic optic neuropathy Dysarthria Optic disc drusen Hearing impairment Delayed speech and language development Rod-cone dystrophy Ophthalmoplegia Papilledema Total ophthalmoplegia Abnormality of skin pigmentation Abnormal iris vasculature Sensorineural hearing impairment Intellectual disability, mild Photophobia Generalized-onset seizure Central scotoma Abnormal chorioretinal morphology



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