Hyperreflexia, and Dyspnea

Diseases related with Hyperreflexia and Dyspnea

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

Top matches:

Hypomyelination neuropathy-arthrogryposis syndrome is a rare, genetic, limb malformation syndrome characterized by multiple congenital distal joint contractures (incl. talipes equinovarus and both proximal and distal interphalangeal joint contractures of the hands) and very severe motor paralysis at birth (i.e. lack of swallowing, autonomous respiratory function and deep tendon reflexes), leading to death within first 3 months of life. Fetal hypo- or akinesia, late-onset polyhydramnios and dramatically reduced, or absent, motor nerve conduction velocities (<10 m/s) are frequently associated. Nerve ultrastructural morphology shows severe abnormalities of the nodes of Ranvier and myelinated axons.

Related symptoms:

  • Muscular hypotonia
  • Respiratory distress
  • Limitation of joint mobility
  • EMG abnormality
  • Reduced tendon reflexes


SOURCES: ORPHANET MENDELIAN

More info about HYPOMYELINATION NEUROPATHY-ARTHROGRYPOSIS SYNDROME

Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD) to progressive infantile encephalopathy.

AUTOSOMAL RECESSIVE DOPA-RESPONSIVE DYSTONIA Is also known as tyrosine hydroxylase-deficient dopa-responsive dystonia|dyt5b|dopa-responsive dystonia, autosomal recessive|tyrosine hydroxylase deficiency|dystonia, dopa-responsive, autosomal recessive|parkinsonism, infantile, autosomal recessive|autosomal recessive seg

Related symptoms:

  • Generalized hypotonia
  • Ataxia
  • Ptosis
  • Feeding difficulties
  • Delayed speech and language development


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE DOPA-RESPONSIVE DYSTONIA

Hyperekplexia-4 is an autosomal recessive severe neurologic disorder apparent at birth. Affected infants have extreme hypertonia and appear stiff and rigid. They have little if any development, poor or absent visual contact, and no spontaneous movement, consistent with an encephalopathy. Some patients have early-onset refractory seizures, and many have inguinal or umbilical hernia. Most patients die in the first months of life due to respiratory failure or other complications (summary by Piard et al., 2018).For a general description and a discussion of genetic heterogeneity of hyperekplexia, see HKPX1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Flexion contracture
  • High palate
  • Hyperreflexia


SOURCES: OMIM MENDELIAN

More info about HYPEREKPLEXIA 4; HKPX4

Other less relevant matches:

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

Rolandic epilepsy (RE) is a focal childhood epilepsy characterized by seizures consisting of unilateral facial sensory-motor symptoms, with electroencephalogram (EEG) showing sharp biphasic waves over the rolandic region. It is an age-related epilepsy, with excellent outcome.

ROLANDIC EPILEPSY Is also known as becrs|bre|benign rolandic epilepsy|bects|centrotemporal epilepsy|benign epilepsy of childhood with centrotemporal spikes|benign familial epilepsy of childhood with rolandic spikes

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about ROLANDIC EPILEPSY

Gamma-aminobutyric acid transaminase (GABA-T) deficiency is an extremely rare disorder of GABA metabolism characterized by a severe neonatal-infantile epileptic encephalopathy (manifesting with symptoms such as seizures, hypotonia, hyperreflexia and developmental delay) and growth acceleration.

GAMMA-AMINOBUTYRIC ACID TRANSAMINASE DEFICIENCY Is also known as gaba transaminase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hyperreflexia
  • Downslanted palpebral fissures


SOURCES: ORPHANET OMIM MENDELIAN

More info about GAMMA-AMINOBUTYRIC ACID TRANSAMINASE DEFICIENCY

Maternally inherited cardiomyopathy and hearing loss is a mitochondrial disease described in two unrelated families to date that has a heterogeneous clinical presentation characterized by the association of progressive sensorineural hearing loss with hypertrophic cardiomyopathy and, in the majority of cases, encephalomyopathy symptoms such as ataxia, slurred speech, progressive external opthalmoparesis (PEO), muscle weakness, myalgia, and exercise intolerance.

MITOCHONDRIAL DNA-RELATED CARDIOMYOPATHY AND HEARING LOSS Is also known as mtdna-related cardiomyopathy and hearing loss|trna-lys-related cardiomyopathy-hearing loss syndrome|maternally-inherited cardiomyopathy and deafness

Related symptoms:

  • Ataxia
  • Sensorineural hearing impairment
  • Muscle weakness
  • Hypertension
  • Peripheral neuropathy


SOURCES: ORPHANET MENDELIAN

More info about MITOCHONDRIAL DNA-RELATED CARDIOMYOPATHY AND HEARING LOSS

Low match WEST SYNDROME

West syndrome (or infantile spasms) is characterised by the association of clusters of axial spasms, psychomotor retardation and an hypsarrhythmic interictal EEG pattern. It is the most frequent type of epileptic encephalopathy. It may occur in otherwise healthy infants and in those with abnormal cognitive development.

WEST SYNDROME Is also known as intellectual disability-hypsarrhythmia syndrome|infantile spasm syndrome, x-linked 1|xmesid|west syndrome, x-linked|ohtahara syndrome, x-linked|infantile spasms|infantile epileptic-dyskinetic encephalopathy|issx1

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about WEST SYNDROME

Type II Gaucher disease is an acute neuronopathic form of the disorder with onset in infancy and death often by 2 years of age. Patients are usually normal at birth, but develop hepatosplenomegaly, developmental regression, and growth arrest within a few months of age. Neurologic deterioration proceeds rapidly, with cranial nerve and extrapyramidal tract involvement (Stone et al., 2000).

GAUCHER DISEASE, TYPE II Is also known as gaucher disease, acute neuronopathic type|gd ii

Related symptoms:

  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Strabismus
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about GAUCHER DISEASE, TYPE II

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 26 Is also known as coxpd26

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 26

Top 5 symptoms//phenotypes associated to Hyperreflexia and Dyspnea

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Encephalopathy Common - Between 50% and 80% cases
Respiratory distress Common - Between 50% and 80% cases
Myoclonus Uncommon - Between 30% and 50% cases
Hypertonia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Seizures Dystonia Spasticity Ataxia Generalized hypotonia Cerebral atrophy Intellectual disability Rigidity Developmental regression Respiratory failure Acidosis Lethargy Hypsarrhythmia Failure to thrive Brisk reflexes Muscle weakness Anemia Tetraparesis Increased serum lactate Dysphagia Feeding difficulties Brain atrophy Poor speech Spastic tetraparesis

Rare Symptoms - Less than 30% cases

Microcephaly Ventriculomegaly Hypoplasia of the corpus callosum Gait disturbance Lactic acidosis Ophthalmoplegia Muscle fibrillation Esotropia Progressive neurologic deterioration Choreoathetosis Intellectual disability, severe Delayed myelination Exercise intolerance Ragged-red muscle fibers Muscular hypotonia Apnea Delayed speech and language development Babinski sign EMG abnormality Muscular hypotonia of the trunk Irritability Dysarthria Tremor Night sweats Increased adipose tissue Mild global developmental delay Lower limb pain Increased serum pyruvate Epicanthus Low-set ears Cognitive impairment Micropenis Abnormality of the nervous system Dyskinesia Generalized myoclonic seizures Chorea Progressive external ophthalmoplegia Multiple lipomas Progressive sensorineural hearing impairment Myalgia Hypertension Peripheral neuropathy Fatigue Reduced tendon reflexes Congestive heart failure Abnormality of cardiovascular system morphology Hypertrophic cardiomyopathy Ophthalmoparesis Mental deterioration Dilated cardiomyopathy Chest pain Febrile seizures Limitation of joint mobility Slurred speech Epileptic encephalopathy Status epilepticus Intellectual disability, profound Malabsorption Recurrent aspiration pneumonia Growth delay Cardiomyopathy Myopathy Hyporeflexia Narrow mouth Paresthesia Trismus Cirrhosis Triangular face Blue sclerae Glucose intolerance Exertional dyspnea Mitochondrial myopathy Gastrointestinal dysmotility Bulbar signs Protuberant abdomen High-pitched cry Developmental stagnation Progressive microcephaly Lissencephaly Hyperkinesis Global brain atrophy Infantile spasms Epileptic spasms Spastic ataxia Oculomotor apraxia Abnormality of skin morphology Strabismus Hepatomegaly Splenomegaly Thrombocytopenia Hepatosplenomegaly Aspiration Sensorineural hearing impairment Severe muscular hypotonia Multifocal epileptiform discharges Postural tremor Exaggerated startle response Lower limb hyperreflexia Nystagmus Hypokinesia Opisthotonus Mask-like facies Drooling Adducted thumb Abnormality of extrapyramidal motor function Bradykinesia Parkinsonism Gait ataxia Neurodegeneration Hyperhidrosis Distal arthrogryposis Limb dystonia Pes cavus Generalized dystonia Oculogyric crisis Decreased CSF homovanillic acid Excessive salivation Focal dystonia Flexion contracture High palate Hernia Central hypotonia Inguinal hernia Progressive encephalopathy Kyphoscoliosis Umbilical hernia Camptodactyly Arthrogryposis multiplex congenita Optic disc pallor Constipation Posterior fossa cyst EEG abnormality Prenatal movement abnormality Downslanted palpebral fissures Absent speech Cerebellar hypoplasia Agenesis of corpus callosum Retrognathia Severe global developmental delay Enterocolitis Abnormality of movement Ptosis Tall stature Leukodystrophy Parkinsonism with favorable response to dopaminergic medication Abnormal cortical gyration Fetal distress Motor delay Exotropia Abnormal facial shape External ophthalmoplegia Leukoencephalopathy Failure to thrive in infancy Stridor Abnormality of the periventricular white matter Intellectual disability, mild Talipes equinovarus Clonus Respiratory insufficiency Vomiting Generalized tonic-clonic seizures Fever Metabolic acidosis Abdominal distention Postnatal microcephaly Abnormal activity of mitochondrial respiratory chain


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