Strabismus, and Sensory neuropathy

Diseases related with Strabismus and Sensory neuropathy

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


Top matches:

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 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 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

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Other less relevant matches:

Low match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 78


AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 78 Is also known as spg78

Related symptoms:

  • Strabismus
  • Cognitive impairment
  • Hyperreflexia
  • Dysarthria
  • Skeletal muscle atrophy


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 78

Low match ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 1


Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 1 is a very rare and severe type of NAGA deficiency (see this term) characterized by infantile neuroaxonal dystrophy.

ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 1 Is also known as schindler disease type 1|naga deficiency type 1

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Nystagmus
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 1

Low match INFANTILE ONSET SPINOCEREBELLAR ATAXIA


Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families.

INFANTILE ONSET SPINOCEREBELLAR ATAXIA Is also known as ophthalmoplegia-hypotonia-ataxia-hypoacusis-athetosis syndrome|spinocerebellar ataxia, infantile, with sensory neuropathy|iosca|spinocerebellar ataxia 8, formerly|ophthalmoplegia, hypotonia, ataxia, hypoacusis, and athetosis|ohaha syndrome|sca8, formerly|

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about INFANTILE ONSET SPINOCEREBELLAR ATAXIA

Low match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 35


Autosomal recessive spastic paraplegia type 35 is a rare form of hereditary spastic paraplegia characterized by childhood (exceptionally adolescent) onset of a complex phenotype presenting with lower limb (followed by upper limb) spasticity with hyperreflexia and extensor plantar responses, with additional manifestations including progressive dysarthria, dystonia, mild cognitive decline, extrapyramidal features, optic atrophy and seizures. White matter abnormalities and brain iron accumulation have also been observed on brain magnetic resonance imaging.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 35 Is also known as fatty acid hydroxylase-associated neurodegeneration|leukodystrophy, dysmyelinating, and spastic paraparesis with or without dystonia|fahn|spg35

Related symptoms:

  • Intellectual disability
  • Seizures
  • Scoliosis
  • Ataxia
  • Nystagmus


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 35

Low match ADULT-ONSET MULTIPLE MITOCHONDRIAL DNA DELETION SYNDROME DUE TO DGUOK DEFICIENCY


Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency is an extremely rare multiple mitochondrial DNA deletion syndrome with markedly decreased deoxyguanosine kinase (DGUOK) activity in skeletal muscle characterized by a highly variable phenotype. Clinical manifestations include progressive external ophthalmoplegia, mitochondrial myopathy, recurrent rhabdomyolysis, lower motor neuron disease, mild cognitive impairment, sensory axonal neuropathy, optic atrophy, ataxia, hypogonadism and/or parkinsonism.

ADULT-ONSET MULTIPLE MITOCHONDRIAL DNA DELETION SYNDROME DUE TO DGUOK DEFICIENCY Is also known as adult-onset multiple mtdna deletion syndrome due to dguok deficiency|progressive external ophthalmoplegia, autosomal recessive 4

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness
  • Cataract
  • Ptosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about ADULT-ONSET MULTIPLE MITOCHONDRIAL DNA DELETION SYNDROME DUE TO DGUOK DEFICIENCY

Low match SPORADIC CREUTZFELDT-JAKOB DISEASE


Sporadic Creutzfeldt-Jakob disease (sCJD) is a subacute fatal neurodegenerative disease belonging to the group of prion diseases, characterized by a clinical triad of dementia, myoclonus, and EEG anomalies, along with neuropathological evidence of neuronal loss, spongiform changes, and astrocytosis. There are three types of CJD: sporadicCJD (sCJD), inherited CJD (see this term), and iatrogenic and variant CJD (vCJD).

SPORADIC CREUTZFELDT-JAKOB DISEASE Is also known as sporadic cjd|creutzfeldt-jakob disease, familial

Related symptoms:

  • Ataxia
  • Cataract
  • Spasticity
  • Visual impairment
  • Peripheral neuropathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPORADIC CREUTZFELDT-JAKOB DISEASE

Low match LYMPHEDEMA, HEREDITARY, IA; LMPH1A


Hereditary primary lymphedema is caused by anatomic or functional defects in the lymphatic system, resulting in chronic swelling of body parts. There may be accompanying nail and skin changes, such as nail dysplasia or papillomatosis. Onset is usually at birth or in early childhood but can occur later, and the severity is variable (summary by Gordon et al., 2013 and Balboa-Beltran et al., 2014). Genetic Heterogeneity of Hereditary Primary LymphedemaPrimary lymphedema is genetically heterogeneous: see also LMPH1B (OMIM ), which maps to chromosome 6q16.2-q22.1; LMPH1C (OMIM ), caused by mutation in the GJC2 gene (OMIM ) on chromosome 1q42; and LMPH1D (OMIM ), caused by mutation in the VEGFC gene (OMIM ) on chromosome 4q34. Hereditary lymphedema III (LMPH3 ) is caused by mutaiton in the PIEZO1 gene (OMIM ) on chromosome 16q24.Also see hereditary lymphedema type II (OMIM ), also known as Meige lymphedema.Lymphedema can also be a feature of syndromic disorders such as lymphedema-distichiasis syndrome (OMIM ), which is caused by mutation in the FOXC2 gene (OMIM ).

LYMPHEDEMA, HEREDITARY, IA; LMPH1A Is also known as primary congenital lymphedema|pcl|nonne-milroy lymphedema|lymphedema, early-onset|milroy disease

Related symptoms:

  • Scoliosis
  • Strabismus
  • Cleft palate
  • Ptosis
  • Ventricular septal defect


SOURCES: OMIM MENDELIAN

More info about LYMPHEDEMA, HEREDITARY, IA; LMPH1A

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

Symptoms // Phenotype % cases
Peripheral neuropathy Common - Between 50% and 80% cases
Nystagmus Uncommon - Between 30% and 50% cases
Cerebellar atrophy Uncommon - Between 30% and 50% cases
Ataxia Uncommon - Between 30% and 50% cases
Dysarthria Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Cognitive impairment Sensory axonal neuropathy Babinski sign Spasticity Hyperreflexia Cerebral cortical atrophy Hearing impairment Seizures Difficulty walking Muscle weakness Intellectual disability Scoliosis Optic atrophy Myoclonus Gait ataxia Urinary urgency Peripheral axonal neuropathy Abnormal pyramidal sign Ophthalmoplegia Dementia Pes cavus

Rare Symptoms - Less than 30% cases


Dystonia Skeletal muscle atrophy Facial myokymia Decreased number of peripheral myelinated nerve fibers Progressive cerebellar ataxia Reduced visual acuity Areflexia Vomiting Hallucinations Muscular hypotonia Abnormality of the periventricular white matter Cataract Peripheral demyelination Abnormal cerebellum morphology Neurodegeneration External ophthalmoplegia Mental deterioration Atrophy/Degeneration affecting the brainstem Ptosis Supranuclear gaze palsy Myopathy Encephalopathy Headache Cerebral visual impairment Lymphedema Paresthesia Visual impairment Hypoplasia of the corpus callosum Dyskinesia Impaired distal tactile sensation Intellectual disability, severe Lower limb muscle weakness Memory impairment Urinary incontinence Lower limb spasticity Truncal ataxia Gait disturbance Paraplegia Tremor Progressive spastic paraplegia Depressivity Spastic paraplegia Limb muscle weakness Proximal muscle weakness Distal muscle weakness Dysphagia Mitochondrial myopathy Rhabdomyolysis Decreased nerve conduction velocity Dysphonia Fasciculations Predominantly lower limb lymphedema Increased serum lactate Hyporeflexia Abnormality of the amniotic fluid Chylous ascites Elevated serum creatine phosphokinase Sensorineural hearing impairment Ragged-red muscle fibers Hepatic failure Photophobia Iron accumulation in globus pallidus Generalized dystonia Spastic paraparesis Oculomotor apraxia Spastic tetraparesis Hypoplasia of lymphatic vessels Dysdiadochokinesis Mask-like facies Bowel incontinence Ankle clonus Progressive spasticity Neck muscle weakness Corpus callosum atrophy Dysmyelinating leukodystrophy Enuresis Upper limb spasticity Progressive spastic paraparesis Pollakisuria Lower limb hypertonia Pontocerebellar atrophy Enuresis nocturna Motor neuron atrophy Hydrocephalus Positional foot deformity Progressive external ophthalmoplegia Recurrent infections Distichiasis Extrapyramidal muscular rigidity Visual field defect Conjunctivitis Muscle fibrillation Increased CSF protein Delusions Visual hallucinations Dysesthesia Normal pressure hydrocephalus Loss of facial expression Abnormality of the nail Aphasia Hydrops fetalis Hirano bodies Tetralogy of Fallot Nail dysplasia Ascites Pulmonary hypoplasia Pulmonic stenosis Cleft palate Ventricular septal defect Edema Blurred vision Foot dorsiflexor weakness Hypoproteinemia Hydrocele testis Blindness Behavioral abnormality Arrhythmia Nonimmune hydrops fetalis Rigidity Anxiety Irritability Paralysis Varicose veins Confusion Edema of the lower limbs Hemangioma Unsteady gait Gliosis Neuronal loss in central nervous system Hemiparesis Choreoathetosis Language impairment Apathy Cellulitis Personality changes Pleural effusion Paraparesis Polyneuropathy Leukodystrophy Diffuse cerebellar atrophy Red-green dyschromatopsia Distal sensory impairment Impaired pain sensation Episodic abdominal pain EMG: neuropathic changes Tics Areflexia of lower limbs Spastic dysarthria Decreased number of large peripheral myelinated nerve fibers Abolished vibration sense Paroxysmal dyskinesia Facial tics Abnormal morphology of the cerebellar cortex Horizontal nystagmus Progressive gait ataxia Neurogenic bladder Progressive spastic quadriplegia Progressive pes cavus Progressive extrapyramidal movement disorder EMG: axonal abnormality Abnormality of ocular smooth pursuit Dysmetric saccades Hepatomegaly Microcephaly Arthritis Spastic gait Impaired vibration sensation in the lower limbs Impaired distal vibration sensation Impaired temperature sensation Impaired distal proprioception Demyelinating motor neuropathy Demyelinating sensory neuropathy Abnormal brainstem MRI signal intensity Intellectual disability, mild Dysgraphia Aggressive behavior Limb ataxia Postural tremor Akinesia Impaired vibratory sensation Gaze-evoked nystagmus Hand tremor Impaired smooth pursuit Head tremor Orofacial dyskinesia Global developmental delay Hyperkeratosis Clonus Abnormality of the autonomic nervous system Involuntary movements Hypergonadotropic hypogonadism Reduced tendon reflexes Mutism Athetosis Poor eye contact Excessive daytime somnolence Loss of ability to walk Mood swings Epilepsia partialis continua Psychosis Focal clonic seizures Hypertonia Kyphosis Abnormality of the cerebral white matter Dysmetria Falls Apraxia Tetraparesis Progressive neurologic deterioration Frequent falls Clumsiness Status epilepticus Autism Abnormality of brainstem morphology Hypertrophic cardiomyopathy Developmental regression Vertigo Abnormality of extrapyramidal motor function Telangiectasia Aplasia/Hypoplasia of the cerebellum Hemiplegia/hemiparesis Generalized amyotrophy Telangiectasia of the skin Generalized hypotonia Specific learning disability Hypogonadism Elevated hepatic transaminase Intellectual disability, moderate Abnormality of the eye Lethargy Abnormality of eye movement Abnormality of movement Nausea Migraine Epileptic encephalopathy Hyperkeratosis over edematous areas



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