Hyperreflexia, and Reduced visual acuity

Diseases related with Hyperreflexia and Reduced visual acuity

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

Top matches:

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 MEPAN SYNDROME

Childhood-onset dystonia with optic atrophy and basal ganglia abnormalities is an autosomal recessive neurologic disorder characterized by onset of involuntary movements in the first decade of life. Optic atrophy develops around the same time or slightly later. Severity is variable, and some patients lose independent ambulation. Brain imaging shows abnormalities in the basal ganglia. Cognition appears to be unaffected (summary by Heimer et al., 2016).

MEPAN SYNDROME Is also known as childhood-onset generalized dystonia-optic atrophy syndrome|dystonia 29|dyt29|autosomal recessive childhood-onset dystonia, dyt29 type|dystonia 29, childhood-onset|mitochondrial enoyl coa reductase protein-associated neurodegeneration syndrome

Related symptoms:

  • Seizures
  • Ataxia
  • Nystagmus
  • Spasticity
  • Visual impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about MEPAN SYNDROME

ATYPICAL PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION Is also known as neurodegeneration with brain iron accumulation type 1, atypical form|pkan, atypical form|nbia1, atypical form

Related symptoms:

  • Spasticity
  • Cognitive impairment
  • Hyperreflexia
  • Dysarthria
  • Optic atrophy


SOURCES: ORPHANET MENDELIAN

More info about ATYPICAL PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION

Other less relevant matches:

IECEE2 is a neurodevelopmental disorder characterized in most patients by onset of seizures in infancy or childhood and associated with global developmental delay and variable intellectual disability. The seizure type and severity varies, and seizures may be intractable in some patients. Some patients are severely affected, unable to walk or speak, whereas others show some development. Additional neurologic features, including cortical blindness, dystonia, and spasticity, may occur. Mutations occur de novo (summary by Hamdan et al., 2017).For a discussion of genetic heterogeneity of IECEE, see IECEE1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2; IECEE2

Autosomal recessive spastic paraplegia type 74 is a rare, genetic, spastic paraplegia-optic atrophy-neuropathy-related (SPOAN-like) disorder characterized by childhood onset of mild to moderate spastic paraparesis which manifests with gait impairment that very slowly progresses into late adulthood, hyperactive patellar reflex and bilateral extensor plantar response, in association with optic atrophy and typical symptoms of peripheral neuropathy, including reduced or absent ankle reflexes, lower limb atrophy and distal sensory impairment. Reduced visual acuity and pes cavus are frequently reported.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 74 Is also known as spg74

Related symptoms:

  • Spasticity
  • Visual impairment
  • Peripheral neuropathy
  • Hyperreflexia
  • Optic atrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 74

MISSBC is an autosomal recessive neurodevelopmental disorder characterized by progressive microcephaly, early-onset seizures, and severely delayed or even absent psychomotor development with profound intellectual disability and spasticity or dystonia. Brain imaging shows midbrain dysplasia and intracerebral calcifications (summary by Aran et al., 2016).

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about MICROCEPHALY, SEIZURES, SPASTICITY, AND BRAIN CALCIFICATIONS; MISSBC

The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The lipopigment patterns observed most often in CLN8 comprise mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles (Mole et al., 2005).For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Delayed speech and language development


SOURCES: OMIM MENDELIAN

More info about CEROID LIPOFUSCINOSIS, NEURONAL, 8; CLN8

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 CLN5 DISEASE

The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The lipopigment patterns observed most often in CLN5 comprise mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles. The clinical course includes progressive dementia, seizures, and progressive visual failure (Mole et al., 2005).For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (OMIM ).

CLN5 DISEASE Is also known as ceroid lipofuscinosis, neuronal, 5, variable age at onset

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Nystagmus
  • Cognitive impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about CLN5 DISEASE

Spinocerebellar ataxia-7 (SCA7) is an autosomal dominant neurodegenerative disorder characterized by adult onset of progressive cerebellar ataxia associated with pigmental macular dystrophy. In her classification of ataxia, Harding (1982) referred to progressive cerebellar ataxia with pigmentary macular degeneration as type II ADCA (autosomal dominant cerebellar ataxia). The age at onset, degree of severity, and rate of progression vary among and within families. Associated neurologic signs, such as ophthalmoplegia, pyramidal or extrapyramidal signs, deep sensory loss, or dementia, are also variable. Genetic anticipation is observed and is greater in paternal than in maternal transmissions (Benomar et al., 1994; summary by David et al., 1996).For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (OMIM ).

SPINOCEREBELLAR ATAXIA 7; SCA7 Is also known as opca iii|opca with macular degeneration and external ophthalmoplegia|adca, type ii|olivopontocerebellar atrophy iii|opca3|opca with retinal degeneration|autosomal dominant cerebellar ataxia, type ii

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 7; SCA7

Top 5 symptoms//phenotypes associated to Hyperreflexia and Reduced visual acuity

Symptoms // Phenotype % cases
Visual impairment Common - Between 50% and 80% cases
Optic atrophy Common - Between 50% and 80% cases
Spasticity Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hyperreflexia and Reduced visual acuity. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Seizures Dysarthria Blindness Progressive visual loss Myoclonus Global developmental delay Visual loss Dysphagia Tremor Chorea Dyskinesia Spastic paraplegia Difficulty walking Cerebellar atrophy Clumsiness Generalized tonic-clonic seizures Paraplegia Dystonia Peripheral neuropathy Babinski sign Generalized hypotonia Nystagmus

Rare Symptoms - Less than 30% cases

Visual field defect Brisk reflexes Delayed speech and language development Encephalopathy EEG abnormality Inability to walk Increased neuronal autofluorescent lipopigment Hypsarrhythmia Postnatal microcephaly Retinal degeneration Congenital microcephaly Dementia External ophthalmoplegia Curvilinear intracellular accumulation of autofluorescent lipopigment storage material Areflexia Nevus Dysmetria Developmental regression Mental deterioration Severe vision loss Ophthalmoplegia Hypoplasia of the corpus callosum Microcephaly Intracellular accumulation of autofluorescent lipopigment storage material Hyperactive patellar reflex Cognitive impairment Irritability Retinopathy Abnormal pyramidal sign Neurological speech impairment Gait disturbance Psychosis Abnormality of the eye Abnormality of mitochondrial metabolism Glaucoma Dysdiadochokinesis Pallor Optic neuropathy Scotoma Centrocecal scotoma Tritanomaly Red-green dyschromatopsia Leber optic atrophy Dyschromatopsia Progressive external ophthalmoplegia Central scotoma Sensorineural hearing impairment Abnormality of color vision Neurodegeneration Supranuclear ophthalmoplegia Orofacial dyskinesia Limb tremor Myopathy Proximal muscle weakness Horizontal nystagmus Hearing impairment Optic disc pallor Muscle cramps Strabismus Neuronal loss in central nervous system Temporal optic disc pallor Ophthalmoparesis Ptosis Failure to thrive Pigmentary retinopathy Abnormality of extrapyramidal motor function Vacuolated lymphocytes Rectilinear intracellular accumulation of autofluorescent lipopigment storage material Macular degeneration Abnormal nervous system electrophysiology Schizophrenia Incoordination Fingerprint intracellular accumulation of autofluorescent lipopigment storage material Motor deterioration Abnormal amplitude of pattern reversal visual evoked potentials Blurred vision Progressive encephalopathy Truncal ataxia Macular dystrophy Unsteady gait Bipolar affective disorder Slow saccadic eye movements Head tremor Spinocerebellar tract degeneration Cerebral cortical atrophy Olivopontocerebellar atrophy Progressive cerebellar ataxia Behavioral abnormality Progressive spastic paraplegia Restlessness Limb dystonia Epileptic encephalopathy Febrile seizures Abnormality of the cerebral white matter Lethargy Absent speech Feeding difficulties Violent behavior Inertia Tongue atrophy Oromandibular dystonia Upper motor neuron dysfunction Focal dystonia Emotional lability Limb myoclonus Obsessive-compulsive behavior Impulsivity Frequent falls Parkinsonism Rigidity Depressivity Craniofacial dystonia Involuntary movements Abnormality of eye movement Motor delay Absent Achilles reflex Abnormality of the nervous system Cerebral visual impairment Pes cavus Hyperactive deep tendon reflexes Severe global developmental delay Focal impaired awareness seizure Broad-based gait Autism Cerebral atrophy Basal ganglia calcification Aspiration Progressive microcephaly Intellectual disability, profound Spastic tetraplegia Cerebral calcification Generalized myoclonic seizures Tetraplegia Muscular hypotonia of the trunk Peripheral axonal neuropathy Hypertonia Distal peripheral sensory neuropathy Decreased activity of mitochondrial complex II Decreased Achilles reflex Cerebral white matter atrophy Decreased activity of mitochondrial complex I Distal lower limb muscle weakness EMG: neuropathic changes Lower limb spasticity Sensory impairment Distal sensory impairment Distal amyotrophy Spinocerebellar atrophy


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