Strabismus, and Peripheral neuropathy

Diseases related with Strabismus and Peripheral neuropathy

In the following list you will find some of the most common rare diseases related to Strabismus and Peripheral neuropathy 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 SPECTRIN-ASSOCIATED AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA


Spectrin-associated autosomal recessive cerebellar ataxia is a rare, genetic neurological disease, due to SPTBN2 mutations, characterized by global development delay in infancy, followed by childhood-onset gait ataxia with limb dysmetria and dysdiadochokinesia, mild to severe intellectual disability, development of cerebellar atrophy, and abnormal eye movements (including a convergent squint, hypometric saccades, jerky pursuit movements and incomplete range of movement).

SPECTRIN-ASSOCIATED AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA Is also known as infantile-onset spinocerebellar ataxia-psychomotor delay syndrome|cerebellar ataxia, autosomal recessive, spectrin-associated, 1|ataxie spinocÉrÉbelleuse À dÉbut infantile avec retard psychomoteur|spectrin-associated autosomal recessive cerebellar ataxia

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Nystagmus
  • Strabismus


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPECTRIN-ASSOCIATED AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA

Low match AUTOSOMAL RECESSIVE CONGENITAL CEREBELLAR ATAXIA DUE TO MGLUR1 DEFICIENCY


Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency is a rare, genetic, slowly progressive neurodegenerative disease resulting from MGLUR1 deficiency characterized by global developmental delay (beginning in infancy), mild to severe intellectual deficit with poor or absent speech, moderate to severe stance and gait ataxia, pyramidal signs (e.g. hyperreflexia) and mild dysdiadochokinesia, dysmetria, tremors, and/or dysarthria. Oculomotor signs, such as nystagmus, strabismus, ptosis and hypometric saccades, may also be associated. Brain imaging reveals progressive, generalized, moderate to severe cerebellar atrophy, inferior vermian hypoplasia, and/or constitutionally small brain.

AUTOSOMAL RECESSIVE CONGENITAL CEREBELLAR ATAXIA DUE TO MGLUR1 DEFICIENCY Is also known as autosomal recessive spinocerebellar ataxia type 13|scar13|autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CONGENITAL CEREBELLAR ATAXIA DUE TO MGLUR1 DEFICIENCY

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Other less relevant matches:

Low match AUTOSOMAL RECESSIVE OPTIC ATROPHY, OPA7 TYPE


A rare, syndromic, hereditary optic neuropathy disorder characterized by early-onset, severe, progressive visual impairment, optic disc pallor and central scotoma, variably associated with dyschromatopsia, auditory neuropathy (e.g. mild progressive sensorineural hearing loss), sensorimotor axonal neuropathy and, occasionally, moderate hypertrophic cardiomyopathy.

Related symptoms:

  • Hearing impairment
  • Nystagmus
  • Strabismus
  • Sensorineural hearing impairment
  • Visual impairment


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE OPTIC ATROPHY, OPA7 TYPE

Low match AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 36


Autosomal dominant spastic paraplegia type 36 (SPG36) is a complex form of hereditary spastic paraplegia, characterized by an onset in childhood or adulthood of progressive spastic paraplegia (with spastic gait, spasticity, lower limb weakness, pes cavus and urinary urgency) associated with the additional manifestation of peripheral sensorimotor neuropathy.

AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 36 Is also known as spg36

Related symptoms:

  • Strabismus
  • Spasticity
  • Peripheral neuropathy
  • Hyperreflexia
  • Babinski sign


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 36

Low match GUILLAIN-BARRE SYNDROME, FAMILIAL; GBS


Guillain-Barre syndrome (GBS) is an acute inflammatory demyelinating polyneuropathy characterized most commonly by symmetric limb weakness and loss of tendon reflexes. It is a putative autoimmune disorder presenting after an infectious illness, most commonly Campylobacter jejuni, a gram-negative bacterium that causes acute enteritis (Yuki and Tsujino, 1995; Koga et al., 2005). Approximately 1 in 1,000 individuals develops GBS after C. jejuni infection (Nachamkin, 2001).Although rare familial cases have been reported, GBS is considered to be a complex multifactorial disorder with both genetic and environmental factors rather than a disorder following simple mendelian inheritance (Geleijns et al., 2004).

GUILLAIN-BARRE SYNDROME, FAMILIAL; GBS Is also known as polyneuropathy, inflammatory demyelinating, acute|aidp

Related symptoms:

  • Ataxia
  • Ptosis
  • Peripheral neuropathy
  • Dysarthria
  • Dysphagia


SOURCES: ORPHANET OMIM MENDELIAN

More info about GUILLAIN-BARRE SYNDROME, FAMILIAL; GBS

Low match SPINOCEREBELLAR ATAXIA 5; SCA5


For a general discussion of autosomal dominant spinocerebellar ataxia (SCA), see SCA1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 5; SCA5

Low match SPINOCEREBELLAR ATAXIA TYPE 27


Spinocerebellar ataxia type 27 (SCA27) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by early-onset tremor, dyskinesia, and slowly progressive cerebellar ataxia.

SPINOCEREBELLAR ATAXIA TYPE 27 Is also known as sca27|cerebellar ataxia, autosomal dominant, fgf14-related

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Ataxia
  • Nystagmus
  • Strabismus


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 27

Low match OPTIC ATROPHY 1; OPA1


Autosomal dominant optic atrophy is characterized by an insidious onset of visual impairment in early childhood with moderate to severe loss of visual acuity, temporal optic disc pallor, color vision deficits, and centrocecal scotoma of variable density (Votruba et al., 1998).Some patients with mutations in the OPA1 gene may also develop extraocular neurologic features, such as deafness, progressive external ophthalmoplegia, muscle cramps, hyperreflexia, and ataxia; see {125250}. There appears to be a wide range of intermediate phenotypes (Yu-Wai-Man et al., 2010).Yu-Wai-Man et al. (2009) provided a detailed review of autosomal dominant optic atrophy and Leber hereditary optic neuropathy (LHON ), with emphasis on the selective vulnerability of retinal ganglion cells to mitochondrial dysfunction in both disorders. Genetic Heterogeneity of Optic AtrophyOptic atrophy-2 (OPA2 ) maps to chromosome Xp11.4-p11.21. OPA3 (OMIM ) is caused by mutation in the OPA3 gene (OMIM ) on chromosome 19q13. OPA4 (OMIM ) maps to chromosome 18q12.2-q12.3. OPA5 (OMIM ) is caused by mutation in the DNM1L gene (OMIM ) on chromosome 12p11. OPA6 (OMIM ) maps to chromosome 8q21-q22. OPA7 (OMIM ) is caused by mutation in the TMEM126A gene (OMIM ) on chromosome 11q14. OPA8 (OMIM ) maps to chromosome 16q21-q22. OPA9 (OMIM ) is caused by mutation in the ACO2 gene (OMIM ) on chromosome 22q13; OPA10 (OMIM ) is caused by mutation in the RTN4IP1 gene (OMIM ) on chromosome 6q21; and OPA11 (OMIM ) is caused by mutation in the YME1L1 gene (OMIM ) on chromosome 10p12.

OPTIC ATROPHY 1; OPA1 Is also known as kjer-type optic atrophy|optic atrophy, kjer type|oak|optic atrophy, juvenile

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Strabismus
  • Sensorineural hearing impairment
  • Visual impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about OPTIC ATROPHY 1; OPA1

Low match SPINOCEREBELLAR ATAXIA TYPE 25


Spinocerebellar ataxia type 25 (SCA25) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia and prominent sensory neuropathy.

SPINOCEREBELLAR ATAXIA TYPE 25 Is also known as sca25

Related symptoms:

  • Scoliosis
  • Ataxia
  • Nystagmus
  • Strabismus
  • Visual impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 25

Top 5 symptoms//phenotypes associated to Strabismus and Peripheral neuropathy

Symptoms // Phenotype % cases
Ataxia Common - Between 50% and 80% cases
Nystagmus Common - Between 50% and 80% cases
Dysarthria Common - Between 50% and 80% cases
Hyperreflexia Uncommon - Between 30% and 50% cases
Gait ataxia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Cerebellar atrophy Horizontal nystagmus Intellectual disability Visual impairment Tremor Reduced visual acuity Dysdiadochokinesis Pes cavus Dysmetria Sensorineural hearing impairment Sensory neuropathy Cognitive impairment Optic atrophy Global developmental delay

Rare Symptoms - Less than 30% cases


Areflexia Facial myokymia Hearing impairment Gait disturbance Visual loss Red-green dyschromatopsia Pallor Progressive visual loss Optic disc pallor Abnormality of mitochondrial metabolism Scotoma Optic neuropathy Impaired smooth pursuit Central scotoma Ophthalmoplegia Dyschromatopsia Babinski sign Gaze-evoked nystagmus Proximal muscle weakness Spastic paraplegia Limb muscle weakness Impaired vibratory sensation Polyneuropathy Urinary urgency Limb ataxia Impaired distal tactile sensation Esotropia Paraplegia Intellectual disability, mild Abnormality of the eye Hypometric saccades Abnormality of eye movement Truncal ataxia Generalized hypotonia Ptosis Dysmetric saccades Broad-based gait Intention tremor Impaired pain sensation Spasticity Abnormality of color vision Sensory impairment Progressive cerebellar ataxia Dysgraphia Orofacial dyskinesia Head tremor Paroxysmal dyskinesia Hand tremor Sensory axonal neuropathy Akinesia Neurological speech impairment Postural tremor Memory impairment Dyskinesia Aggressive behavior Difficulty walking Depressivity Intellectual disability, severe Microcephaly Downbeat nystagmus Decreased nerve conduction velocity Fetal distress Myokymia Upper motor neuron dysfunction Cerebellar vermis atrophy Resting tremor Abnormality of ocular smooth pursuit Myopathy Reduced tendon reflexes Vomiting Facial tics Abolished vibration sense Diffuse cerebellar atrophy Decreased number of large peripheral myelinated nerve fibers Spastic dysarthria Areflexia of lower limbs Tics EMG: neuropathic changes Episodic abdominal pain Decreased number of peripheral myelinated nerve fibers Distal sensory impairment Scoliosis Blindness Abnormal amplitude of pattern reversal visual evoked potentials Temporal optic disc pallor Centrocecal scotoma Tritanomaly Leber optic atrophy Progressive external ophthalmoplegia Severe vision loss Visual field defect External ophthalmoplegia Muscle cramps Neurodegeneration Glaucoma Ankle clonus Acute demyelinating polyneuropathy Abnormality of visual evoked potentials Hypertrophic cardiomyopathy Diplopia Motor axonal neuropathy Slurred speech Progressive gait ataxia Constriction of peripheral visual field Exotropia Jerky ocular pursuit movements Seizures Peripheral axonal neuropathy Short stature Cardiomyopathy Arthritis Ventriculomegaly Absent speech Pes planus Abnormality of ocular abduction Inferior vermis hypoplasia Retrocerebellar cyst Functional motor deficit Limb dysmetria Gaze-evoked horizontal nystagmus Difficulty standing Intellectual disability, profound Dementia Distal muscle weakness Incoordination Dysphagia Cerebral palsy Clonus Cerebellar hypoplasia Abnormal pyramidal sign Bulbar palsy Ophthalmoparesis Tetraplegia Delayed speech and language development Autoimmunity Respiratory failure Motor delay Abnormal brainstem MRI signal intensity Abnormality of extrapyramidal motor function Demyelinating sensory neuropathy Demyelinating motor neuropathy Impaired distal proprioception Impaired temperature sensation Impaired distal vibration sensation Impaired vibration sensation in the lower limbs Progressive spastic paraplegia Spastic gait Lower limb spasticity Urinary incontinence Lower limb muscle weakness Abnormal morphology of the cerebellar cortex



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