Hyperreflexia, and Sleep disturbance

Diseases related with Hyperreflexia and Sleep disturbance

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

Top matches:

Female restricted epilepsy with intellectual disability is a rare X-linked epilepsy syndrome characterized by febrile or afebrile seizures (mainly tonic-clonic, but also absence, myoclonic, and atonic) starting in the first years of life and, in most cases, developmental delay and intellectual disability of variable severity. Behavioral disturbances (e.g. autistic features, hyperactivity, and aggressiveness) are also frequently associated. This disease affects exclusively females, with male carriers being unaffected, despite an X-linked inheritance.

FEMALE RESTRICTED EPILEPSY WITH INTELLECTUAL DISABILITY Is also known as juberg-hellman syndrome|efmr|epilepsy, female-restricted, with mental retardation

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about FEMALE RESTRICTED EPILEPSY WITH INTELLECTUAL DISABILITY

Spinocerebellar ataxia type 10 (SCA10) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar syndrome and epilepsy, sometimes mild pyramidal signs, peripheral neuropathy and neuropsychological disturbances.

SPINOCEREBELLAR ATAXIA TYPE 10 Is also known as sca10

Related symptoms:

  • Generalized hypotonia
  • Nystagmus
  • Hyperreflexia
  • Dysarthria
  • Cerebellar atrophy


SOURCES: ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 10

PCH2D is an autosomal recessive disorder characterized by progressive microcephaly, postnatal onset of progressive atrophy of the cerebrum and cerebellum, profound mental retardation, spasticity, and variable seizures (summary by Ben-Zeev et al., 2003).For a general phenotypic description and a discussion of genetic heterogeneity of pontocerebellar hypoplasia type 2, see PCH2A (OMIM ).

PONTOCEREBELLAR HYPOPLASIA, TYPE 2D; PCH2D Is also known as pcca|cerebellocerebral atrophy, progressive

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA, TYPE 2D; PCH2D

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

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

Brain dopamine-serotonin vesicular transport disease is a newly discovered infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances.

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about BRAIN DOPAMINE-SEROTONIN VESICULAR TRANSPORT DISEASE

Parkinson disease is the second most common neurogenic disorder after Alzheimer disease (AD ), affecting approximately 1% of the population over age 50. Clinical manifestations include resting tremor, muscular rigidity, bradykinesia, and postural instability. Additional features are characteristic postural abnormalities, dysautonomia, dystonic cramps, and dementia (Polymeropoulos et al., 1996).For a general phenotypic description and a discussion of genetic heterogeneity of Parkinson disease, see {168600}.

PARKINSON DISEASE 1, AUTOSOMAL DOMINANT; PARK1 Is also known as parkinson disease 1, autosomal dominant lewy body

Related symptoms:

  • Spasticity
  • Delayed speech and language development
  • Hyperreflexia
  • Dysarthria
  • Tremor


SOURCES: OMIM MESH MENDELIAN

More info about PARKINSON DISEASE 1, AUTOSOMAL DOMINANT; PARK1

Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses.

HEREDITARY HYPEREKPLEXIA Is also known as hereditary hyperexplexia|familial startle disease|kok disease|startle disease, familial|stiff baby syndrome|exaggerated startle reaction|sthe|congenital stiff man syndrome|stiff-baby syndrome|stiff-person syndrome, congenital|startle reaction, exaggerated

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Spasticity
  • Hyperreflexia


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEREDITARY HYPEREKPLEXIA

Spinocerebellar ataxia type 7 (SCA7), currently the only known form of autosomal dominant cerebellar ataxia type 2 (ADCA2; see this term), is a neurodegenerative disorder characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness.

SPINOCEREBELLAR ATAXIA TYPE 7 Is also known as ataxia with pigmentary retinopathy|sca7|cerebellar syndrome-pigmentary maculopathy syndrome

Related symptoms:

  • Global developmental delay
  • Ataxia
  • Nystagmus
  • Failure to thrive
  • Muscle weakness


SOURCES: ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 7

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LOPES-MACIEL-RODAN SYNDROME; LOMARS

Top 5 symptoms//phenotypes associated to Hyperreflexia and Sleep disturbance

Symptoms // Phenotype % cases
Ataxia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Spasticity Common - Between 50% and 80% cases
Dystonia Common - Between 50% and 80% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Tremor Dysphagia Dysarthria Rigidity Generalized hypotonia Intellectual disability Cerebellar atrophy Depressivity Gait disturbance Dyskinesia Cerebral atrophy Parkinsonism Bradykinesia Shuffling gait Abnormal pyramidal sign Dysdiadochokinesis Cognitive impairment Hypokinesia Babinski sign Muscular hypotonia of the trunk Encephalopathy Hypertonia Postural instability

Rare Symptoms - Less than 30% cases

Abnormal autonomic nervous system physiology Muscle stiffness Microcephaly Hypoplasia of the corpus callosum Fatigue Irritability Progressive neurologic deterioration Orofacial dyskinesia Chorea Abnormality of extrapyramidal motor function Restless legs Urinary urgency Neuronal loss in central nervous system Gliosis Myoclonus Alzheimer disease Motor delay Anxiety Dementia Mental deterioration Feeding difficulties Postnatal microcephaly Spastic tetraparesis Unsteady gait Psychosis Status epilepticus Focal-onset seizure Atonic seizures Bruxism Nystagmus Epileptic encephalopathy Aggressive behavior Intellectual disability, severe Dysmetria Developmental regression Scoliosis Fever Delayed speech and language development Focal impaired awareness seizure Oculogyric crisis Stridor Hypoventilation Small hand Delusions Lewy bodies Nasal speech Parkinsonism with favorable response to dopaminergic medication Short foot Central hypoventilation Micrographia Hernia Poor head control Limb dystonia Resting tremor Orthostatic hypotension Stooped posture Hallucinations Hypotension High myopia Urinary incontinence Inability to walk Abnormality of the vasculature Hypomimic face Tetraparesis Ankle clonus Central hypotonia Abnormality of coordination Inappropriate crying Poor speech Ophthalmoplegia Inguinal hernia Cone/cone-rod dystrophy Hiatus hernia Esophagitis Myokymia Exaggerated startle response Nocturnal seizures Failure to thrive Ophthalmoparesis Macular degeneration Myotonia Muscle weakness Sensory impairment Blindness Congestive heart failure Visual loss Reduced visual acuity Photophobia Loss of consciousness Joint dislocation Gastroesophageal reflux Abnormality of movement Neonatal hypotonia Severe global developmental delay Apnea Joint stiffness Absent speech Kyphosis Hip dislocation Falls Hemeralopia Myopia Frequent falls Aspiration Pain Fasciculations Congenital hip dislocation Abnormal fundus morphology Umbilical hernia Insomnia Abnormality of eye movement Flexion contracture Impaired smooth pursuit Gait imbalance Kinetic tremor Scanning speech Focal motor seizures EEG with generalized epileptiform discharges Delayed myelination Apathy Spastic tetraplegia Intellectual disability, profound Progressive microcephaly Clonus Progressive spasticity Cerebellar vermis atrophy Abnormality of the periventricular white matter Gaze-evoked nystagmus Lower limb spasticity Ventriculomegaly Cutaneous photosensitivity Hyperactivity Autism EEG abnormality Autistic behavior Generalized tonic-clonic seizures Generalized myoclonic seizures Febrile seizures Absence seizures Intention tremor Hyperventilation Hemiclonic seizures Intermittent hyperventilation Hyporeflexia Gait ataxia Progressive cerebellar ataxia Generalized-onset seizure Limb joint contracture Behavioral abnormality Abnormality of the foot Intellectual disability, progressive Inappropriate behavior Diffuse leukoencephalopathy Frontal lobe dementia Frontal release signs Abnormality of the nervous system Small for gestational age Choreoathetosis Poor suck CNS demyelination Episodic fever Excessive daytime somnolence Excessive salivation Hyperphenylalaninemia Transient hyperphenylalaninemia Ptosis Hyperhidrosis Vegetative state Astrocytosis Cerebral cortical atrophy Apraxia Difficulty walking Abnormality of the cerebral white matter Confusion Neurodegeneration Brain atrophy Memory impairment Peripheral demyelination Leukodystrophy Senile plaques Leukoencephalopathy Mutism Personality changes Decreased number of peripheral myelinated nerve fibers Neurofibrillary tangles Atrophy/Degeneration affecting the brainstem Frontotemporal dementia Caudate atrophy


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