Hyperreflexia, and Tachycardia

Diseases related with Hyperreflexia and Tachycardia

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

Top matches:

Thyrotoxic periodic paralysis (TPP) is a rare neurological disease characterized by recurrent episodes of paralysis and hypokalemia during a thyrotoxic state.

THYROTOXIC PERIODIC PARALYSIS Is also known as thyrotoxic hypokalemic periodic paralysis

Related symptoms:

  • Muscle weakness
  • Hypertension
  • Hyperreflexia
  • Tremor
  • Obesity


SOURCES: OMIM ORPHANET MENDELIAN

More info about THYROTOXIC PERIODIC PARALYSIS

Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome is a rare, genetic, neurodegenerative disease characterized by episodic metabolic encephalomyopathic crises (of variable frequency and severity which are frequently precipitated by an acute illness) which manifest with profound muscle weakness, ataxia, seizures, cardiac arrhythmias, rhabdomyolysis with myoglobinuria, elevated plasma creatine kinase, hypoglycemia, lactic acidosis, increased acylcarnitines and a disorientated or comatose state. Global developmental delay, intellectual disability and cortical, pyramidal and cerebellar signs develop with subsequent progressive neurodegeneration causing loss of expressive language and varying degrees of cerebral atrophy.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about RECURRENT METABOLIC ENCEPHALOMYOPATHIC CRISES-RHABDOMYOLYSIS-CARDIAC ARRHYTHMIA-INTELLECTUAL DISABILITY SYNDROME

Triple A syndrome is a very rare multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration.

TRIPLE A SYNDROME Is also known as glucocorticoid deficiency and achalasia|quaternary a syndrome|addisonian-achalasia syndrome|achalasia-addisonianism-alacrima syndrome|alacrima-achalasia-adrenal insufficiency neurologic disorder|2a syndrome|3a syndrome|adrenal insufficiency-achalasia-alac

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about TRIPLE A SYNDROME

Other less relevant matches:

Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder classically characterized by progressive gait and limb ataxia, dysarthria, dysphagia, oculomotor dysfunction, loss of deep tendon reflexes, pyramidal tract signs, scoliosis, and in some, cardiomyopathy, diabetes mellitus, visual loss and defective hearing.

FRIEDREICH ATAXIA Is also known as frda1|fa|frda

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about FRIEDREICH ATAXIA

MT-ATP6-related mitochondrial spastic paraplegia is a rare, genetic, complex hereditary spastic paraplegia disorder characterized by adulthood-onset of slowly progressive, bilateral, mainly lower limb spasticity and distal weakness associated with lower limb pain, hyperreflexia, and reduced vibration sense. Axonal neuropathy is frequently observed on electromyography and nerve conduction examination.

MT-ATP6-RELATED MITOCHONDRIAL SPASTIC PARAPLEGIA Is also known as maternally-inherited spastic paraplegia|maternally-inherited spg

Related symptoms:

  • Hyperreflexia
  • Optic atrophy
  • Cardiomyopathy
  • Babinski sign
  • Diabetes mellitus


SOURCES: ORPHANET MENDELIAN

More info about MT-ATP6-RELATED MITOCHONDRIAL SPASTIC PARAPLEGIA

Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome is a rare mitochondrial disease due to a defect in coenzyme Q10 biosynthesis that manifests with a broad spectrum of signs and symptoms which may include: neonatal lactic acidosis, global developmental delay, tonus disorder, seizures, reduced spontaneous movements, ventricular hypertrophy, bradycardia, renal tubular dysfunction with massive lactic acid excretion in urine, severe biochemical defect of respiratory chain complexes II/III when assayed together and deficiency of coenzyme Q10 in skeletal muscle. Cerebral and cerebellar atrophy can be seen on magnetic resonance imaging and multiple choroid plexus cysts and symmetrical hyperechoic signal alterations in basal ganglia have been observed on ultrasound.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Feeding difficulties
  • Hyperreflexia


SOURCES: ORPHANET OMIM MENDELIAN

More info about ENCEPHALOPATHY-HYPERTROPHIC CARDIOMYOPATHY-RENAL TUBULAR DISEASE SYNDROME

MGCA8 is an autosomal recessive metabolic disorder resulting in death in infancy. Features include hypotonia, abnormal movements, respiratory insufficiency with apneic episodes, and lack of developmental progress, often with seizures. Brain imaging is variable, but may show progressive cerebral atrophy. Laboratory studies show increased serum lactate and 3-methylglutaconic aciduria, suggesting a mitochondrial defect (summary by Mandel et al., 2016).For a phenotypic description and a discussion of genetic heterogeneity of 3-methylglutaconic aciduria, see MGCA type I (OMIM ).

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about 3-METHYLGLUTACONIC ACIDURIA, TYPE VIII; MGCA8

Aromatic L-amino acid decarboxylase deficiency is a very rare, severe, genetic neurometabolic disorder associated with clinical manifestations related to underproduction of serotonin and dopamine, mainly hypotonia, hypokinesia, ptosis oculogyric crises, and signs of autonomic dysfunction.

AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY Is also known as ddc deficiency|aadc deficiency|dopa decarboxylase deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Pain
  • Ptosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY

Congenital glutamine deficiency is a severe autosomal recessive disorder characterized by onset at birth of encephalopathy, lack of normal development, seizures, and hypotonia associated with variable brain abnormalities (summary by Haberle et al., 2011).

CONGENITAL BRAIN DYSGENESIS DUE TO GLUTAMINE SYNTHETASE DEFICIENCY Is also known as glutamine synthase deficiency, congenital systemic|inherited gs deficiency|inherited glutamine synthetase deficiency

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CONGENITAL BRAIN DYSGENESIS DUE TO GLUTAMINE SYNTHETASE DEFICIENCY

Low match DESMINOPATHY

Desminopathy is a rare genetic skeletal muscle disease characterized by abnormal chimeric aggregates of desmin and other cytoskeletal proteins and granulofilamentous material at the ultrastructural level in muscle biopsies and variable clinical/ myopathological features, age of disease onset and rate of disease progression. Patients present with bilateral skeletal muscle weakness that starts in distal leg muscles and spreads proximally, sometimes involving trunk, neck flexors and facial muscles and often cardiomyopathy manifested by conduction blocks, arrhythmias, chronic heart failure, and sometimes tachyarrhythmia. Weakness eventually leads to wheelchair dependence. Respiratory insufficiency can be a major cause of disability and death, beginning with nocturnal hyperventilation with oxygen desaturation and progressing to daytime respiratory failure.

DESMINOPATHY Is also known as desmin-related myofibrillar myopathy

Related symptoms:

  • Cardiomyopathy
  • Diarrhea
  • Arrhythmia
  • Constipation
  • Proximal muscle weakness


SOURCES: ORPHANET MENDELIAN

More info about DESMINOPATHY

Top 5 symptoms//phenotypes associated to Hyperreflexia and Tachycardia

Symptoms // Phenotype % cases
Dystonia Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Muscle weakness Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Respiratory insufficiency Cerebral atrophy Cardiomyopathy Fatigue Optic atrophy Hypertrophic cardiomyopathy Increased serum lactate Feeding difficulties Babinski sign Arrhythmia Hypertonia Apnea Abnormal cerebellum morphology Muscle stiffness Neurodegeneration Intellectual disability Hearing impairment Microcephaly Diarrhea Peripheral axonal neuropathy Ataxia Sensorineural hearing impairment Hypoplasia of the corpus callosum Dysarthria Hyperhidrosis Hypoglycemia Constipation Encephalopathy Bradycardia

Rare Symptoms - Less than 30% cases

Lower limb spasticity Acidosis Lactic acidosis Ventricular hypertrophy Dilated cardiomyopathy Abnormality of eye movement Clonus Left ventricular hypertrophy Atrial fibrillation Chorea Diabetes mellitus Cardiac arrest Abnormal autonomic nervous system physiology Cerebellar atrophy Postnatal microcephaly Ptosis Pain Hypokinesia Weak cry Hypothermia Abnormality of visual evoked potentials Ventriculomegaly Orthostatic hypotension Hypotension Ventricular tachycardia Pes cavus Gait ataxia Difficulty walking Dysphagia Peripheral neuropathy Abnormal pyramidal sign Muscular hypotonia Hyperactive deep tendon reflexes Hyperammonemia Drooling Oral-pharyngeal dysphagia Visual impairment Late-onset proximal muscle weakness Rhabdomyolysis Gait disturbance Cognitive impairment Ventricular fibrillation Lower limb muscle weakness Weight loss Palpitations Tremor Progressive spastic paraplegia Right ventricular cardiomyopathy Atrophic superior cerebellar peduncle Structural foot deformity Impaired visually enhanced vestibulo-ocular reflex Hyporeflexia of lower limbs Impaired vibration sensation in the lower limbs Abolished vibration sense Spinal cord posterior columns myelin loss Palmar hyperhidrosis Temporal optic disc pallor Skeletal myopathy Vitreomacular adhesion Distal lower limb muscle weakness Supraventricular arrhythmia Decreased pyruvate carboxylase activity Lower limb pain Leg muscle stiffness Intrauterine growth retardation Left bundle branch block Neck muscle weakness Small for gestational age Decreased fetal movement Bulbar palsy Right bundle branch block Atrioventricular block Aminoaciduria EMG: myopathic abnormalities Abnormality of the dentate nucleus Muscular subvalvular aortic stenosis Mitochondrial malic enzyme reduced Abnormal saccadic eye movements Myocardial fibrosis Areflexia of lower limbs Hyposmia Spinocerebellar tract degeneration Gait imbalance Impaired proprioception Asymmetric septal hypertrophy Subvalvular aortic stenosis T-wave inversion Poor fine motor coordination Abnormal echocardiogram Lower limb amyotrophy Positive Romberg sign Abnormality of cardiovascular system physiology Sinus tachycardia Cervical spinal cord atrophy Incomprehensible speech Abnormal levels of creatine kinase in blood Respiratory insufficiency due to muscle weakness Decreased amplitude of sensory action potentials Hemifacial hypertrophy Abnormality of the autonomic nervous system Left anterior fascicular block Upper limb amyotrophy Hand muscle atrophy Restrictive heart failure Cerebellar cortical atrophy Concentric hypertrophic cardiomyopathy Diabetic ketoacidosis Decreased sensory nerve conduction velocity Reduced systolic function Opisthotonus Severe lactic acidosis Sudden cardiac death Agitation Ketoacidosis Severe global developmental delay Skin rash Lethargy Sleep disturbance Syncope Cyanosis Choreoathetosis Abnormality of the face Leukodystrophy Hyperkinesis Emotional lability Athetosis Erythema Limb dystonia Irritability Limb hypertonia Intermittent hypothermia Temperature instability Nasal obstruction Low-set ears Miosis Flexion contracture Depressed nasal bridge Respiratory tract infection Wide nasal bridge Insomnia Anteverted nares Short nose Recurrent respiratory infections Camptodactyly Micromelia Thin vermilion border Distal muscle weakness Growth delay Respiratory failure Necrolytic migratory erythema Proximal muscle weakness Facial palsy Fever Cataract Decreased activity of mitochondrial complex III Generalized myoclonic seizures Decreased activity of mitochondrial complex II Abnormal enzyme/coenzyme activity Hyperalaninemia Abnormality of the renal tubule Abnormal renal physiology Decreased CSF homovanillic acid Neutropenia Subependymal cysts Brain atrophy CNS hypomyelination Feeding difficulties in infancy Elbow flexion contracture Abnormal intestine morphology Muscular hypotonia of the trunk Gastroesophageal reflux Myoclonus Lower limb hyperreflexia Aciduria Motor delay 3-Methylglutaconic aciduria Increased CSF lactate Poor suck Periventricular cysts Abnormality of extrapyramidal motor function Increased reactive oxygen species production Chest pain Urinary bladder sphincter dysfunction Nephropathy Poor coordination Myoglobinuria Spastic diplegia Myopathic facies Spastic tetraplegia Metabolic acidosis Confusion Torsade de pointes Elevated hepatic transaminase Hypothyroidism Elevated serum creatine phosphokinase Absent speech Thyrotoxicosis with toxic multinodular goitre Thyrotoxicosis with toxic single thyroid nodule Ketonuria Prolonged QTc interval Decreased urinary potassium Hyperkeratosis Parkinsonism Palmoplantar keratoderma Polyneuropathy Iris coloboma Developmental regression Abnormality of the nervous system Dementia Acute rhabdomyolysis Dilatation Skeletal muscle atrophy Short stature Premature thelarche Elevated plasma acylcarnitine levels Premature pubarche Transient hypophosphatemia Episodic hypokalemia Hyperpigmentation of the skin Goiter Prolonged QT interval Mildly elevated creatine phosphokinase Hyperkalemia Myotonia Ophthalmoparesis Hypokalemia EMG abnormality Thyroiditis Tetraplegia Muscle cramps Paralysis Proptosis Hyporeflexia Obesity Hyperthyroidism Hashimoto thyroiditis Thyrotoxicosis with diffuse goiter Shortened PR interval Second degree atrioventricular block Episodic flaccid weakness Respiratory paralysis Exercise-induced muscle fatigue Periodic hypokalemic paresis Increased intramyocellular lipid droplets Impaired myocardial contractility Hypomagnesemia Postprandial hyperglycemia Abnormality of muscle fibers Periodic paralysis Urinary retention Abnormality of peripheral nerve conduction Graves disease Heat intolerance Tetraparesis Spastic tetraparesis Ketosis Optic disc pallor Insulin resistance Spastic gait Limb ataxia Involuntary movements Clumsiness Intention tremor Peripheral demyelination Paraparesis Sensory impairment Hypertension Progressive cerebellar ataxia Sensory neuropathy Inability to walk Falls Truncal ataxia Spastic paraparesis Unsteady gait Decreased motor nerve conduction velocity Heart block Abnormal EKG Thoracic scoliosis Optic neuropathy Visual field defect Glucose intolerance Sensory axonal neuropathy Reduced tendon reflexes Hammertoe Impaired vibratory sensation Dysdiadochokinesis Cachexia Incoordination Slurred speech Ventricular arrhythmia Vertigo Dysmetria Palmoplantar hyperkeratosis Anterior hypopituitarism Abnormality of the hypothenar eminence Abnormality of the calf musculature Anisocoria Plantar hyperkeratosis Alacrima Decreased circulating aldosterone level Decreased circulating cortisol level Scoliosis Achalasia Motor axonal neuropathy Primary adrenal insufficiency Generalized hyperpigmentation Ectopic kidney Adrenal insufficiency Adrenocorticotropin receptor defect Nystagmus Abnormality of movement Cerebral cortical atrophy Abnormality of the foot Limb muscle weakness Pallor Pes planus Kyphoscoliosis Reduced visual acuity Hyperactivity Spasticity Areflexia Visual loss Depressivity Kyphosis Congestive heart failure Respiratory distress Talipes equinovarus Trifascicular block


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