Hyperreflexia, and Neurodegeneration

Diseases related with Hyperreflexia and Neurodegeneration

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

Top matches:

Parkinson disease-23 is a progressive neurodegenerative disorder characterized by young-adult onset of parkinsonism associated with progressive cognitive impairment leading to dementia and dysautonomia. Some individuals have additional motor abnormalities. Affected individuals become severely disabled within a few decades (summary by Lesage et al., 2016).

Related symptoms:

  • Spasticity
  • Cognitive impairment
  • Hyperreflexia
  • Tremor
  • Cerebral atrophy


SOURCES: OMIM MENDELIAN

More info about PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK23

Autosomal dominant striatal degeneration (ADSD) is an adult-onset movement disorder characterized by bradykinesia, dysarthria and muscle rigidity.

AUTOSOMAL DOMINANT STRIATAL NEURODEGENERATION Is also known as adsd

Related symptoms:

  • Dysarthria
  • Tremor
  • Gait disturbance
  • Dysphagia
  • Rigidity


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT STRIATAL NEURODEGENERATION

Spastic ataxia-8 with hypomyelinating leukodystrophy is an autosomal recessive progressive neurodegenerative disorder characterized by onset of primarily motor dysfunction within the first year of life. Affected individuals initially have hypotonia and later develop ataxia, spasticity, and a pyramidal syndrome with weakness and loss of ambulation. Other features may include dystonia, dysarthria, and abnormal eye movements. Brain imaging shows cerebellar atrophy and hypomyelinating leukodystrophy. One family with cognitive impairment has also been reported (summary by Chelban et al., 2017).For a discussion of genetic heterogeneity of spastic ataxia, see SPAX1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY; SPAX8

Other less relevant matches:

Childhood-onset neurodegeneration with ataxia, dystonia, and gaze palsy is an autosomal recessive progressive disorder characterized by onset of gait ataxia, cognitive decline, and gaze palsy in the first or second decades. Additional features include dysarthria, dystonia, and athetoid movements. Some patients may become wheelchair-bound as young adults (summary by Haack et al., 2016).

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Hyperreflexia


SOURCES: OMIM MENDELIAN

More info about NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET; NADGP

Huntington disease-like 2 (HDL2) is a severe neurodegenerative disorder considered part of the neuroacanthocytosis syndromes (see this term) characterized by a triad of movement, psychiatric, and cognitive abnormalities.

HUNTINGTON DISEASE-LIKE 2 Is also known as hdl2

Related symptoms:

  • Seizures
  • Ataxia
  • Hyperreflexia
  • Dysarthria
  • Gait disturbance


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about HUNTINGTON DISEASE-LIKE 2

AUTOSOMAL RECESSIVE SPASTIC ATAXIA-OPTIC ATROPHY-DYSARTHRIA SYNDROME Is also known as spax4|autosomal recessive spastic ataxia type 4

Related symptoms:

  • Ataxia
  • Nystagmus
  • Delayed speech and language development
  • Motor delay
  • Hyperreflexia


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC ATAXIA-OPTIC ATROPHY-DYSARTHRIA SYNDROME

ALS17 is an adult-onset progressive neurodegenerative disorder with predominantly lower motor neuron involvement, manifest as muscle weakness and wasting of the upper and lower limbs, bulbar signs, and respiratory insufficiency (summary by Cox et al., 2010).

AMYOTROPHIC LATERAL SCLEROSIS 17; ALS17 Is also known as amyotrophic lateral sclerosis, chmp2b-related

Related symptoms:

  • Muscle weakness
  • Dysarthria
  • Skeletal muscle atrophy
  • Dysphagia
  • Respiratory insufficiency


SOURCES: MESH OMIM MENDELIAN

More info about AMYOTROPHIC LATERAL SCLEROSIS 17; ALS17

Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia is a rare autosomal dominant disease characterized by a complex phenotype including progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy.

HEREDITARY DIFFUSE LEUKOENCEPHALOPATHY WITH AXONAL SPHEROIDS AND PIGMENTED GLIA Is also known as dementia, familial, neumann type|adult-onset leukoencephalopathy with axonal spheroids and pigmented glia|fpsg|familial progressive subcortical gliosis|leukoencephalopathy with neuroaxonal spheroids, autosomal dominant|pold|alsp|pigmentary orthochromatic

Related symptoms:

  • Seizures
  • Ataxia
  • Spasticity
  • Cognitive impairment
  • Hyperreflexia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about HEREDITARY DIFFUSE LEUKOENCEPHALOPATHY WITH AXONAL SPHEROIDS AND PIGMENTED GLIA

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

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Spasticity
  • Hyperreflexia


SOURCES: OMIM MENDELIAN

More info about AICARDI-GOUTIERES SYNDROME 2; AGS2

Top 5 symptoms//phenotypes associated to Hyperreflexia and Neurodegeneration

Symptoms // Phenotype % cases
Dysarthria Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Parkinsonism Uncommon - Between 30% and 50% cases
Spasticity Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hyperreflexia and Neurodegeneration. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Abnormal pyramidal sign Rigidity Dystonia Dementia Tremor Limb ataxia Leukodystrophy Cognitive impairment Bradykinesia Dysphagia Gait disturbance Babinski sign Nystagmus Cerebral atrophy Cerebral cortical atrophy Mental deterioration Optic atrophy

Rare Symptoms - Less than 30% cases

Personality changes Abnormality of the eye Spastic paraplegia Spastic ataxia Cerebellar atrophy Memory impairment Apraxia Behavioral abnormality Depressivity Paraplegia Falls Hyporeflexia Hearing impairment Motor delay Frontotemporal dementia Generalized hypotonia Dysdiadochokinesis Neuronal loss in central nervous system Neurofibrillary tangles Limb dystonia Progressive neurologic deterioration Abnormality of movement Muscle stiffness Visual loss Strabismus Sensorineural hearing impairment Visual impairment Peripheral demyelination Brain atrophy Gliosis Postural instability Peripheral neuropathy Blindness Abnormality of extrapyramidal motor function Diffuse leukoencephalopathy Frontal release signs Frontal lobe dementia Inappropriate behavior Restless legs Vegetative state Leukoencephalopathy CNS demyelination Astrocytosis Senile plaques Mutism Shuffling gait Alzheimer disease Decreased number of peripheral myelinated nerve fibers Insomnia Atrophy/Degeneration affecting the brainstem Myopathy Visual field defect Glaucoma Dilatation Tritanomaly Centrocecal scotoma Temporal optic disc pallor Abnormal amplitude of pattern reversal visual evoked potentials Microcephaly Hypertonia Encephalopathy Leber optic atrophy Pruritus Cerebral calcification Clonus Basal ganglia calcification Lymphocytosis Knee clonus Red-green dyschromatopsia Dyschromatopsia Reduced visual acuity Horizontal nystagmus Proximal muscle weakness Pallor Ophthalmoplegia Muscle cramps Progressive visual loss Optic disc pallor External ophthalmoplegia Progressive external ophthalmoplegia Abnormality of mitochondrial metabolism Abnormality of color vision Abnormality of the cerebral white matter Scotoma Optic neuropathy Central scotoma Severe vision loss Confusion Movement abnormality of the tongue Difficulty walking Vertical supranuclear gaze palsy Gait ataxia Dysmetria Unsteady gait Urinary incontinence Oculomotor apraxia Athetosis Weight loss Hypometric saccades Anxiety Irritability Chorea Involuntary movements Hallucinations Apathy Head titubation Titubation Action tremor Lower limb hyperreflexia Abnormal autonomic nervous system physiology Akinesia Resting tremor Lewy bodies Hyperkinesis Slurred speech Hypokinesia Truncal ataxia Hyperactive deep tendon reflexes Abnormality of the basal ganglia Degeneration of the striatum Symmetric lesions of the basal ganglia Global developmental delay Abnormality of eye movement Delusions Acanthocytosis Hypoplasia of the corpus callosum Amyotrophic lateral sclerosis Areflexia Respiratory failure Lower limb muscle weakness Fasciculations Respiratory insufficiency due to muscle weakness Brisk reflexes Bulbar signs Skeletal muscle atrophy Abnormal lower motor neuron morphology Spastic dysarthria Tongue fasciculations Tongue atrophy Motor neuron atrophy Ventriculomegaly Respiratory insufficiency Muscle weakness Primitive reflex Progressive cerebellar ataxia Functional motor deficit Caudate atrophy Abnormal corpus striatum morphology Abnormality of the cerebrum Delayed speech and language development Myoclonus Frequent falls Upper limb hypertonia Paraparesis Spastic paraparesis Emotional lability Delayed ability to walk Progressive gait ataxia Lower limb hypertonia Chronic CSF lymphocytosis


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