Hyperreflexia, and Progressive neurologic deterioration

Diseases related with Hyperreflexia and Progressive neurologic deterioration

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

Top matches:

Medium match ABRI AMYLOIDOSIS

ABri amyloidosis is a rare, neurodegenerative disease characterized by progressive cognitive impairment, spastic tetraparesis, and cerebellar ataxia resulting from amyloid deposits in the brain. Spasticity with increased deep tendon reflexes and tone are early symptoms, muscular rigidity evolves later. Progressive mental deterioration usually starts with apathy and impaired memory with progression to complete disorientation.

ABRI AMYLOIDOSIS Is also known as presenile dementia with spastic ataxia|fbd|cerebral amyloid angiopathy, british type|familial dementia, british type|dementia, familial british

Related symptoms:

  • Ataxia
  • Spasticity
  • Hyperreflexia
  • Tremor
  • Hypertonia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ABRI AMYLOIDOSIS

MMDS5 is an autosomal recessive disorder characterized mainly by progressive neurologic deterioration beginning in early infancy. Affected individuals have essentially no psychomotor development and have early-onset seizures with neurologic decline and spasticity. Brain imaging shows severe leukodystrophy with evidence of dys- or delayed myelination. Death usually occurs in early childhood (summary by Shukla et al., 2017).For a general description and a discussion of genetic heterogeneity of multiple mitochondrial dysfunctions syndrome, see MMDS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Spasticity
  • Feeding difficulties
  • Hyperreflexia


SOURCES: OMIM MENDELIAN

More info about MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5; MMDS5

Rapid-onset dystonia-parkinsonism (RDP) is a very rare movement disorder, characterized by the abrupt onset of parkinsonism and dystonia, often triggered by physical or psychological stress.

RAPID-ONSET DYSTONIA-PARKINSONISM Is also known as dyt12|dystonia-parkinsonism, rapid-onset|rdp|dystonia 12

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Motor delay


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about RAPID-ONSET DYSTONIA-PARKINSONISM

Other less relevant matches:

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

This disease is characterised by progressive cerebellar ataxia with pyramidal and spinal cord dysfunction, associated with distinctive MRI anomalies and increased lactate in the abnormal white matter.

LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT-HIGH LACTATE SYNDROME Is also known as mitochondrial aspartyl-trna synthetase deficiency|leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome|lbsl

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Nystagmus


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT-HIGH LACTATE SYNDROME

Tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia (HPA) comprises a genetically heterogeneous group of progressive neurologic disorders caused by autosomal recessive mutations in the genes encoding enzymes involved in the synthesis or regeneration of BH4. BH4 is a cofactor for phenylalanine hydroxylase (PAH ), tyrosine hydroxylase (TH ) and tryptophan hydroxylase (TPH1 ), the latter 2 of which are involved in neurotransmitter synthesis. The BH4-deficient HPAs are characterized phenotypically by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits (Dudesek et al., 2001).HPABH4A, caused by mutations in the PTS gene, represents the most common cause of BH4-deficient hyperphenylalaninemia (Dudesek et al., 2001). Other forms of BH4-deficient HPA include HPABH4B (OMIM ), caused by mutation in the GCH1 gene (OMIM ), HPABH4C (OMIM ), caused by mutation in the QDPR gene (OMIM ), and HPABH4D (OMIM ), caused by mutation in the PCBD1 gene (OMIM ). Niederwieser et al. (1982) noted that about 1 to 3% of patients with hyperphenylalaninemia have one of these BH4-deficient forms. These disorders are clinically and genetically distinct from classic phenylketonuria (PKU ), caused by mutation in the PAH gene.Two additional disorders associated with BH4 deficiency and neurologic symptoms do not have overt hyperphenylalaninemia as a feature: dopa-responsive dystonia (OMIM ), caused by mutation in the SPR gene (OMIM ), and autosomal dominant dopa-responsive dystonia (DYT5 ), caused by mutation in the GCH1 gene. Patients with these disorders may develop hyperphenylalaninemia when stressed.

HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A; HPABH4A Is also known as hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to pts deficiency|6-pyruvoyl-tetrahydropterin synthase deficiency|pts deficiency

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A; HPABH4A

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Spasticity
  • Hyperreflexia


SOURCES: OMIM MENDELIAN

More info about AICARDI-GOUTIERES SYNDROME 2; AGS2

HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B; HPABH4B Is also known as gtp cyclohydrolase i deficiency|hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to gtp cyclohydrolase i deficiency

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B; HPABH4B

Related symptoms:

  • Global developmental delay
  • Microcephaly
  • Nystagmus
  • Spasticity
  • Tremor


SOURCES: OMIM MENDELIAN

More info about AICARDI-GOUTIERES SYNDROME 6; AGS6

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

Top 5 symptoms//phenotypes associated to Hyperreflexia and Progressive neurologic deterioration

Symptoms // Phenotype % cases
Spasticity Common - Between 50% and 80% cases
Tremor Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Hypertonia Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Hyperreflexia and Progressive neurologic deterioration. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases

Dystonia Rigidity Global developmental delay Parkinsonism Motor delay Dysarthria Dysphagia Postural instability Intellectual disability Bradykinesia Gait disturbance Leukodystrophy Babinski sign Neurodegeneration Depressivity Leukoencephalopathy Nystagmus Fever Microcephaly Irritability Cerebral atrophy Encephalopathy Developmental regression Neuronal loss in central nervous system

Rare Symptoms - Less than 30% cases

Abnormality of the cerebral white matter Confusion Dementia Muscular hypotonia of the trunk Abnormality of the nervous system Peripheral demyelination Mental deterioration Paraplegia Cerebral calcification Clonus Oculogyric crisis Neurofibrillary tangles Cognitive impairment Drooling Hypoplasia of the corpus callosum Behavioral abnormality Alzheimer disease Muscle weakness Abnormality of extrapyramidal motor function Muscle stiffness Truncal ataxia Lethargy Mutism Limb dystonia Torticollis Anxiety Increased serum lactate Hyperphenylalaninemia Lactic acidosis Excessive salivation Acidosis Spastic paraplegia Episodic fever Hypokinesia Feeding difficulties Gait ataxia Ventriculomegaly Abnormality of movement Choreoathetosis Apraxia Unsteady gait Poor suck Senile plaques Gliosis Progressive cerebellar ataxia Intellectual disability, progressive Abnormality of the eye Hyperactivity Hyperhidrosis Constipation Fatigue Knee clonus Ptosis Muscular hypotonia Strabismus Chronic CSF lymphocytosis Pruritus Basal ganglia calcification Lymphocytosis Abnormality of eye movement Tetraparesis Involuntary movements Stridor Generalized dystonia Moderate global developmental delay Loss of ability to walk Limb tremor Failure to thrive Anemia Failure to thrive in infancy Progressive spastic paraplegia Respiratory failure Dyspnea Ophthalmoplegia External ophthalmoplegia Spastic tetraparesis Exotropia Dilatation Freckling Severe muscular hypotonia Skin rash Hyperkinesis Obsessive-compulsive behavior Impulsivity Opisthotonus Limb hypertonia Infantile encephalopathy Brisk reflexes Ankle clonus Optic disc pallor Falls Hemolytic anemia Frequent falls Lower limb spasticity Toe walking Loss of speech CNS demyelination Optic atrophy Emotional lability Difficulty walking Cerebral cortical atrophy Retrocollis Personality disorder Craniofacial dystonia Abnormal posturing Weak voice Torsion dystonia Focal dystonia Hypomimic face Resting tremor Dysphonia Brain atrophy Broad-based gait Inability to walk Intellectual disability, mild Cerebellar atrophy Pachygyria Pigmentary retinopathy Delayed myelination Retinopathy Elevated serum creatine phosphokinase Cerebral amyloid angiopathy Abnormality of the adrenal glands Apathy Abnormal pyramidal sign Memory impairment Transient hyperphenylalaninemia Delayed speech and language development Excessive daytime somnolence Small for gestational age Sensory ataxia Episodic ataxia Slurred speech Clumsiness Peripheral axonal neuropathy Poor speech Hyporeflexia Skeletal muscle atrophy Peripheral neuropathy Flexion contracture Personality changes Frontal release signs Frontal lobe dementia Diffuse leukoencephalopathy Inappropriate behavior Restless legs Vegetative state Astrocytosis Shuffling gait Frontotemporal dementia Insomnia Atrophy/Degeneration affecting the brainstem Decreased number of peripheral myelinated nerve fibers Abnormality of the periventricular white matter


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