Hyperreflexia, and Optic disc pallor

Diseases related with Hyperreflexia and Optic disc pallor

In the following list you will find some of the most common rare diseases related to Hyperreflexia and Optic disc pallor that can help you solving undiagnosed cases.

Top matches:

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 13; SCA13

Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency is a rare, genetic, slowly progressive neurodegenerative disease resulting from GRID2 deficiency characterized by motor, speech and cognitive delay, hypotonia, truncal and appendicular ataxia, and eye movement abnormalities (tonic upgaze, nystagmus, oculomotor apraxia). Intention tremor may also be associated. Brain imaging reveals progressive cerebellar atrophy with cerebellar flocculus particularly affected.

AUTOSOMAL RECESSIVE CONGENITAL CEREBELLAR ATAXIA DUE TO GRID2 DEFICIENCY Is also known as autosomal recessive congenital cerebellar ataxia due to ionotropic glutamate receptor delta-2 subunit deficiency|scar18

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CONGENITAL CEREBELLAR ATAXIA DUE TO GRID2 DEFICIENCY

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

Other less relevant matches:

Spastic paraplegia-optic atrophy-neuropathy (SPOAN) syndrome is a rare, complex type of hereditary spastic paraplegia characterized by early-onset progressive spastic paraplegia presenting in infancy, associated with optic atrophy, fixation nystagmus, polyneuropathy occurring in late childhood/early adolescence leading to severe motor disability and progressive joint contractures and scoliosis. SPOAN syndrome is caused by mutations in the KLC2 gene (11q13.1), encoding kinesin light chain 2.

SPASTIC PARAPLEGIA-OPTIC ATROPHY-NEUROPATHY SYNDROME Is also known as spoan|spg68|autosomal recessive spastic paraplegia type 68

Related symptoms:

  • Global developmental delay
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Pain


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SPASTIC PARAPLEGIA-OPTIC ATROPHY-NEUROPATHY SYNDROME

Mitochondrial complex III deficiency, nuclear type 8, is an autosomal recessive disorder characterized by progressive neurodegeneration with onset in childhood. Affected individuals may have normal or delayed early development, and often have episodic acute neurologic decompensation and regression associated with febrile illnesses. The developmental regression results in variable intellectual disability and motor deficits, such as hypotonia, axial hypertonia, and spasticity; some patients may lose the ability to walk independently. Laboratory studies show increased serum lactate and isolated deficiency of mitochondrial complex III in skeletal muscle and fibroblasts. Brain imaging shows a characteristic pattern of multifocal small cystic lesions in the periventricular and deep cerebral white matter (summary by Dallabona et al., 2016).For a discussion of genetic heterogeneity of mitochondrial complex III deficiency, see MC3DN1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8; MC3DN8

Autosomal recessive spastic paraplegia type 75 is a rare, complex hereditary spastic paraplegia characterized by an early onset and slow progression of spastic paraplegia associated with cerebellar signs, nystagmus, peripheral neuropathy, extensor plantar responses and borderline to mild intellectual disability. Additional features of hypo- or areflexia, mild upper limb involvement and significant visual impairment (optic atrophy, vision loss, astigmatism) have been reported.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 75 Is also known as spg75

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 75

Spastic paraplegia, intellectual disability, nystagmus, and obesity (SINO) is an autosomal dominant neurologic disorder characterized by rapid growth in infancy, global developmental delay, spastic paraplegia, variable ophthalmologic defects, and dysmorphic facial features (summary by Josifova et al., 2016).

SPASTIC PARAPLEGIA-INTELLECTUAL DISABILITY-NYSTAGMUS-OBESITY SYNDROME Is also known as sino syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Nystagmus
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPASTIC PARAPLEGIA-INTELLECTUAL DISABILITY-NYSTAGMUS-OBESITY SYNDROME

Encephalopathy due to defective mitochondrial and peroxisomal fission-2 is an autosomal recessive disorder characterized by delayed psychomotor development, severe hypotonia with inability to walk, microcephaly, and abnormal signals in the basal ganglia. More variable features include early-onset seizures, optic atrophy, and peripheral neuropathy (summary by Koch et al., 2016).For a discussion of genetic heterogeneity of EMPF, see EMPF1 (OMIM ).

MFF-RELATED ENCEPHALOPATHY DUE TO MITOCHONDRIAL AND PEROXISOMAL FISSION DEFECT Is also known as leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome|leigh-like encephalopathy-optic atrophy-peripheral neuropathy syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about MFF-RELATED ENCEPHALOPATHY DUE TO MITOCHONDRIAL AND PEROXISOMAL FISSION DEFECT

Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by onset in childhood marked by delayed motor and cognitive development followed by mild progression of cerebellar ataxia.

SPINOCEREBELLAR ATAXIA TYPE 13 Is also known as sca13

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 13

The autosomal dominant cerebellar degenerative disorders are generally referred to as 'spinocerebellar ataxias,' (SCAs) even though 'spinocerebellar' is a hybrid term, referring to both clinical signs and neuroanatomical regions (Margolis, 2003). Neuropathologists have defined SCAs as cerebellar ataxias with variable involvement of the brainstem and spinal cord, and the clinical features of the disorders are caused by degeneration of the cerebellum and its afferent and efferent connections, which involve the brainstem and spinal cord (Schols et al., 2004; Taroni and DiDonato, 2004).Historically, Harding (1982) proposed a clinical classification for autosomal dominant cerebellar ataxias (ADCAs). ADCA I was characterized by cerebellar ataxia in combination with various associated neurologic features, such as ophthalmoplegia, pyramidal and extrapyramidal signs, peripheral neuropathy, and dementia, among others. ADCA II was characterized by the cerebellar ataxia, associated neurologic features, and the additional findings of macular and retinal degeneration. ADCA III was a pure form of late-onset cerebellar ataxia without additional features. SCA1, SCA2 (OMIM ), and SCA3, or Machado-Joseph disease (OMIM ), are considered to be forms of ADCA I. These 3 disorders are characterized at the molecular level by CAG repeat expansions on 6p24-p23, 12q24.1, and 14q32.1, respectively. SCA7 (OMIM ), caused by a CAG repeat expansion in the ATXN7 gene (OMIM ) on chromosome 3p13-p12, is a form of ADCA II. SCA5 (OMIM ), SCA31 (OMIM ), SCA6 (OMIM ), and SCA11 (OMIM ) are associated with phenotypes most suggestive of ADCA III. However, Schelhaas et al. (2000) noted that there is significant phenotypic overlap between different forms of SCA as well as significant phenotypic variability within each subtype.Classic reviews of olivopontocerebellar atrophies and of inherited ataxias in general include those of Konigsmark and Weiner (1970), who identified 5 types of olivopontocerebellar atrophy, Berciano (1982), Harding (1993), Schelhaas et al. (2000), and Margolis (2003).

SPINOCEREBELLAR ATAXIA 1; SCA1 Is also known as opca i|opca1|opca4|olivopontocerebellar atrophy i|spinocerebellar atrophy i|opca iv|menzel type opca|olivopontocerebellar atrophy iv|cerebelloparenchymal disorder i|schut-haymaker type opca|cpd1

Related symptoms:

  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Muscular hypotonia
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 1; SCA1

Top 5 symptoms//phenotypes associated to Hyperreflexia and Optic disc pallor

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Nystagmus Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Dysarthria Common - Between 50% and 80% cases
Optic atrophy Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Hyperreflexia and Optic disc pallor. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Ataxia

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability Spastic paraplegia Paraplegia Peripheral neuropathy Cerebellar atrophy Dysmetria Difficulty walking Spasticity Limb ataxia Cognitive impairment Neurodegeneration Babinski sign Hypertonia Motor delay Dysphagia Gait ataxia External ophthalmoplegia Seizures Titubation Hyporeflexia Impaired vibratory sensation Ophthalmoplegia Abnormality of extrapyramidal motor function Hearing impairment Abnormal cerebellum morphology Reduced visual acuity

Rare Symptoms - Less than 30% cases

Areflexia Brisk reflexes Temporal optic disc pallor Glaucoma Skeletal muscle atrophy Dystonia Hypermetropia Distal amyotrophy Delayed gross motor development Progressive spastic paraplegia Distal lower limb amyotrophy Hyporeflexia of lower limbs Hypoplasia of the corpus callosum Visual loss Encephalopathy Respiratory failure Abnormal facial shape Impaired distal vibration sensation Clonus Astigmatism Cerebral atrophy Ventriculomegaly Flexion contracture Gaze-evoked nystagmus Jerky ocular pursuit movements Gait disturbance Horizontal nystagmus Clumsiness Progressive cerebellar ataxia Truncal ataxia Incoordination Dysdiadochokinesis Abnormal pyramidal sign Esotropia Intellectual disability, moderate Myoclonus Muscular hypotonia Visual impairment Muscular hypotonia of the trunk Supranuclear ophthalmoplegia Decreased sensory nerve conduction velocity Deeply set eye Polyhydramnios Tongue atrophy Prominent forehead Agenesis of corpus callosum Full cheeks Neuronal loss in central nervous system Decreased amplitude of sensory action potentials Obesity Impaired horizontal smooth pursuit Spinocerebellar atrophy Delayed myelination Delayed speech and language development Areflexia of lower limbs Spastic dysarthria Corpus callosum atrophy Spastic paraparesis Paraparesis Leukodystrophy Spastic gait Abnormality of the cerebral white matter Neonatal hypotonia Dysmetric saccades Limb hypertonia Plagiocephaly Spinocerebellar tract degeneration Bradykinesia Torticollis Urinary urgency Hyperactive deep tendon reflexes Difficulty running Upgaze palsy Slow saccadic eye movements Postural instability Urinary bladder sphincter dysfunction Bulbar palsy Dementia Retinal degeneration Chorea Decreased motor nerve conduction velocity Urinary incontinence Intellectual disability, mild Scanning speech Microcephaly Partial agenesis of the corpus callosum Fasciculations Dilation of lateral ventricles Abnormal CNS myelination Esophoria Dilated fourth ventricle Olivopontocerebellar atrophy Short stature Absent speech Inability to walk Epileptic encephalopathy Hypsarrhythmia Severe muscular hypotonia Ophthalmoparesis Impaired visuospatial constructive cognition Impaired vibration sensation in the lower limbs Abnormality of the periventricular white matter Myopathy Dyschromatopsia Progressive external ophthalmoplegia Severe vision loss Central scotoma Optic neuropathy Scotoma Visual field defect Abnormality of color vision Abnormality of mitochondrial metabolism Progressive visual loss Muscle cramps Pallor Abnormality of the eye Proximal muscle weakness Blindness Red-green dyschromatopsia Unsteady gait Cerebral palsy Morphological abnormality of the pyramidal tract Limb dysmetria Neurological speech impairment Abnormality of eye movement Poor speech Brain atrophy Sensorineural hearing impairment Apraxia Oculomotor apraxia Cerebellar vermis atrophy Rotary nystagmus Functional motor deficit Strabismus Leber optic atrophy Tritanomaly Stridor Muscle weakness Failure to thrive in infancy Leukoencephalopathy Spastic tetraparesis Exotropia Progressive neurologic deterioration Tetraparesis Increased serum lactate Lactic acidosis Lethargy Irritability Developmental regression Acidosis Dyspnea Anemia Failure to thrive Centrocecal scotoma Peripheral axonal neuropathy Abnormal amplitude of pattern reversal visual evoked potentials Scoliosis Pain Kyphosis Pes cavus Hyperhidrosis Sensory neuropathy Hyperreflexia proximally Sensorimotor neuropathy Sensory axonal neuropathy Multiple joint contractures Decreased number of peripheral myelinated nerve fibers Motor axonal neuropathy Exaggerated startle response Dorsal column degeneration


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