Hyperreflexia, and Pneumonia

Diseases related with Hyperreflexia and Pneumonia

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


Top matches:

Medium match MALIGNANT MIGRATING PARTIAL SEIZURES OF INFANCY


Early infantile epileptic encephalopathy-14 is a severe neurologic disorder characterized by onset in the first 6 months of life of refractory focal seizures and arrest of psychomotor development. Ictal EEG shows discharges that arise randomly from various areas of both hemispheres and migrate from one brain region to another. The disorder presents as 'malignant migrating partial seizures of infancy' (MMPSI), a clinical designation (summary by Barcia et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

MALIGNANT MIGRATING PARTIAL SEIZURES OF INFANCY Is also known as mmpei|malignant migrating partial epilepsy of infancy|mmpsi|migrating partial epilepsy of infancy|mpsi|mpei|migrating partial seizures of infancy

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MALIGNANT MIGRATING PARTIAL SEIZURES OF INFANCY

Medium match GORDON HOLMES SYNDROME; GDHS


Gordon Holmes syndrome is an autosomal recessive adult-onset neurodegenerative disorder characterized by progressive cognitive decline, dementia, and variable movement disorders, such as ataxia and chorea. The neurologic phenotype is associated with hypogonadotropic hypogonadism (summary by Santens et al., 2015).

GORDON HOLMES SYNDROME; GDHS Is also known as cahh|cerebellar ataxia and hypogonadotropic hypogonadism|luteinizing hormone-releasing hormone, deficiency of, with ataxia|lhrh deficiency and ataxia

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Dysarthria
  • Abnormality of the skeletal system
  • Cerebellar atrophy


SOURCES: OMIM MENDELIAN

More info about GORDON HOLMES SYNDROME; GDHS

Medium match DIFFUSE CEREBRAL AND CEREBELLAR ATROPHY-INTRACTABLE SEIZURES-PROGRESSIVE MICROCEPHALY SYNDROME


Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome is a rare, genetic, central nervous system malformation syndrome characterized by congenital, progressive microcephaly, neonatal to infancy-onset of severe, intractable seizures, and diffuse cerebral cortex and cerebellar vermis atrophy with mild cerebellar hemisphere atrophy, associated with profound global developmental delay. Hypotonia or hypertonia with brisk reflexes, variable dysmorphic facial features, ophthalmological signs (cortical visual impairment, nystagmus, eye deviation) and episodes of sudden extreme agitation caused by severe illness may also be associated.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Low-set ears


SOURCES: ORPHANET OMIM MENDELIAN

More info about DIFFUSE CEREBRAL AND CEREBELLAR ATROPHY-INTRACTABLE SEIZURES-PROGRESSIVE MICROCEPHALY SYNDROME

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Other less relevant matches:

Medium match CLASSIC PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION


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

Related symptoms:

  • Seizures
  • Global developmental delay
  • Spasticity
  • Cognitive impairment
  • Hyperreflexia


SOURCES: ORPHANET MENDELIAN

More info about CLASSIC PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION

Medium match GAUCHER DISEASE, TYPE II


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

Medium match SPINAL MUSCULAR ATROPHY-PROGRESSIVE MYOCLONIC EPILEPSY SYNDROME


Spinal muscular atrophy-progressive myoclonic epilepsy syndrome is characterized by hereditary myoclonus and progressive distal muscular atrophy. Less than 10 cases have been reported. Treatment with clonazepam results in complete and lasting improvement of the myoclonus.

SPINAL MUSCULAR ATROPHY-PROGRESSIVE MYOCLONIC EPILEPSY SYNDROME Is also known as hereditary myoclonus-progressive distal muscular atrophy syndrome|jankovic-rivera syndrome|myoclonus, hereditary, with progressive distal muscular atrophy

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Sensorineural hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SPINAL MUSCULAR ATROPHY-PROGRESSIVE MYOCLONIC EPILEPSY SYNDROME

Medium match SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE; SPG50


Spastic paraplegia-50 is an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development (summary by Verkerk et al., 2009).

SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE; SPG50 Is also known as cerebral palsy, spastic quadriplegic, 3, formerly|cpsq3, formerly

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE; SPG50

Medium match PELIZAEUS-MERZBACHER-LIKE DISEASE DUE TO HSPD1 MUTATION


PELIZAEUS-MERZBACHER-LIKE DISEASE DUE TO HSPD1 MUTATION Is also known as mitochondrial hsp60 chaperonopathy|mitchap60 disease

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Nystagmus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PELIZAEUS-MERZBACHER-LIKE DISEASE DUE TO HSPD1 MUTATION

Medium match PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY


Phosphoenolpyruvate carboxykinase (PEPCK) deficiency is a gluconeogenesis disorder that results from impairment in the enzyme PEPCK, and comprising cytosolic (PEPCK1) and mitochondrial (PEPCK2) forms of enzyme deficiency. Onset of symptoms is neonatal or a few months after birth and includes hypoglycemia associated with acute episodes of severe lactic acidosis, progressive neurological deterioration, severe liver failure, renal tubular acidosis and Fanconi syndrome. Patients also present progressive multisystem damage with failure to thrive, muscular weakness and hypotonia, developmental delay with seizures, spasticity, lethargy, microcephaly and cardiomyopathy. To date, there is no conclusive evidence of the existence of an isolated form of this disorder.

PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY Is also known as pepck deficiency|pc deficiency|leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency|ataxia with lactic acidosis ii|leigh syndrome due to pyruvate carboxylase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY

Medium match 2,4-DIENOYL-COA REDUCTASE DEFICIENCY; DECRD


DECR deficiency is a rare autosomal recessive inborn error of metabolism resulting in mitochondrial dysfunction. Affected individuals have a severe encephalopathy with neurologic and metabolic dysfunction beginning in early infancy. Laboratory studies show decreased activity of the mitochondrial NADP(H)-dependent enzymes DECR1 (OMIM ) and AASS (OMIM ), resulting in increased C10:2-carnitine levels and hyperlysinemia (summary by Houten et al., 2014).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about 2,4-DIENOYL-COA REDUCTASE DEFICIENCY; DECRD

Top 5 symptoms//phenotypes associated to Hyperreflexia and Pneumonia

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Spasticity Common - Between 50% and 80% cases
Aspiration Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Aspiration pneumonia Cerebral atrophy Apnea Failure to thrive Microcephaly Hypoplasia of the corpus callosum Ventriculomegaly Leukodystrophy Clonus Strabismus Hypertonia Cerebellar atrophy Dysarthria Babinski sign Intellectual disability Tetraplegia Encephalopathy

Rare Symptoms - Less than 30% cases


Muscular hypotonia Cerebral cortical atrophy Narrow forehead Intellectual disability, severe Unsteady gait Renal tubular acidosis Developmental regression Neonatal hypotonia Myoclonus Blindness Wide nasal bridge Respiratory distress Acidosis Hepatomegaly Feeding difficulties Spastic tetraplegia Absent speech Inability to walk Choreoathetosis Dementia Hearing impairment Progressive spasticity Developmental stagnation Nystagmus Progressive microcephaly Gait disturbance Status epilepticus Dysphagia Frequent falls Ataxia Delayed myelination CNS hypomyelination Gliosis Generalized myoclonic seizures Cerebral visual impairment Focal-onset seizure Everted upper lip vermilion Facial hypotonia Bulbous nose Drooling Intellectual disability, progressive Infantile muscular hypotonia Cerebral palsy Adducted thumb High palate Paraplegia Loss of consciousness Bilateral sensorineural hearing impairment Progressive muscle weakness Fasciculations EMG abnormality Absence seizures Respiratory insufficiency due to muscle weakness Spinal muscular atrophy Gowers sign Oral-pharyngeal dysphagia Generalized amyotrophy Abnormality of the cerebral white matter Atonic seizures Tongue fasciculations Degeneration of anterior horn cells Progressive distal muscular atrophy Talipes equinovarus Mandibular prognathia Coarse facial features Wide mouth Short philtrum Spastic paraplegia Pseudobulbar signs Horizontal nystagmus Wide nasal ridge Chronic metabolic acidosis Periventricular leukomalacia Dysgraphia Hyperalaninemia Increased serum pyruvate Cystinuria Proximal renal tubular acidosis Increased head circumference Necrotizing encephalopathy Periventricular cysts Congenital lactic acidosis Athetosis Neuronal loss in the cerebral cortex Dystonia Pancreatitis Abnormality of mitochondrial metabolism Global brain atrophy Central hypotonia Central apnea Hyperlysinemia Respiratory acidosis Ketoacidosis Hyperammonemia Growth delay Leukoencephalopathy Flexion contracture Optic atrophy Edema Feeding difficulties in infancy Apraxia Intellectual disability, profound Postnatal microcephaly Hydrops fetalis Falls Malnutrition Tachypnea Motor delay Macrocephaly Vomiting Congestive heart failure Renal insufficiency Hypoglycemia Lactic acidosis Metabolic acidosis Increased serum lactate Generalized-onset seizure Ophthalmoplegia Neurological speech impairment Inappropriate behavior Hypogonadotrophic hypogonadism Dysdiadochokinesis Personality changes Impulsivity Brisk reflexes Atrophy/Degeneration affecting the brainstem Loss of speech Oligomenorrhea Chorioretinal dystrophy Chorea Low-set ears Visual impairment Depressed nasal bridge Epicanthus Posteriorly rotated ears Low-set, posteriorly rotated ears Neurodegeneration Sloping forehead Hypotelorism Memory impairment Progressive cerebellar ataxia Cortical gyral simplification Flushing Muscular hypotonia of the trunk Epileptic encephalopathy Neuronal loss in central nervous system Cyanosis Hypsarrhythmia Involuntary movements Muscle fibrillation Poor eye contact Epileptic spasms Multifocal seizures Parkinsonism Focal motor seizures Abnormality of the skeletal system Abnormality of metabolism/homeostasis Hypogonadism Aggressive behavior Mental deterioration Infertility Dysmetria Abnormal cerebellum morphology Agitation Cerebellar vermis atrophy Respiratory tract infection Skeletal muscle atrophy Progressive neurologic deterioration Oculomotor apraxia Protuberant abdomen Trismus Bulbar signs Recurrent aspiration pneumonia Scoliosis Sensorineural hearing impairment Muscle weakness Tremor Rigidity Respiratory insufficiency Areflexia Recurrent respiratory infections Pes cavus Difficulty walking EEG abnormality Proximal muscle weakness Facial palsy Hyperlordosis Esotropia Hepatosplenomegaly Rhabdomyolysis Toe walking Cognitive impairment Rod-cone dystrophy Weight loss Attention deficit hyperactivity disorder Cough Pigmentary retinopathy Optic disc pallor Muscle stiffness Increased susceptibility to fractures Mask-like facies Respiratory failure Opisthotonus Generalized dystonia Abnormality of the tongue Abnormal posturing Eye of the tiger anomaly of globus pallidus Iron accumulation in brain Anemia Splenomegaly Thrombocytopenia Decreased plasma free carnitine



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