Hyperreflexia, and Hyperglycemia

Diseases related with Hyperreflexia and Hyperglycemia

In the following list you will find some of the most common rare diseases related to Hyperreflexia and Hyperglycemia 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

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2; MSSGM2

Medium match H SYNDROME

H syndrome is a systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML).

H SYNDROME Is also known as sinus histiocytosis and massive lymphadenopathy|hjcd|shml|hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss|h syndrome|faisalabad histiocytosis|pigmented hypertrichosis wi

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about H SYNDROME

Other less relevant matches:

Infantile cerebellar-retinal degeneration is a rare, neurodegenerative disorder characterized by an early onset of truncal hypotonia, variable forms of seizures, athetosis, severe global developmental delay, intellectual disability and various ophthalmologic abnormalities, including strabismus, nystagmus, optic atrophy and retinal degeneration.

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about INFANTILE CEREBELLAR-RETINAL DEGENERATION

Congenital fiber-type disproportion (CFTD) myopathy is a genetically heterogeneous disorder in which there is relative hypotrophy of type 1 muscle fibers compared to type 2 fibers on skeletal muscle biopsy. However, these findings are not specific and can be found in many different myopathic and neuropathic conditions. Clarke and North (2003) stated that the diagnosis of 'congenital fiber-type disproportion' as a disease entity is one of exclusion. They also suggested that the nonspecific histologic findings should be termed 'fiber size disproportion,' thus reserving the term CFTD for those cases in which no secondary cause can be found.

MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD Is also known as cftdm|fiber-type disproportion myopathy, congenital

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD

HYPOGLYCEMIA, LEUCINE-INDUCED; LIH Is also known as leucine-sensitive hypoglycemia of infancy

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Strabismus
  • Spasticity


SOURCES: OMIM MESH MENDELIAN

More info about HYPOGLYCEMIA, LEUCINE-INDUCED; LIH

D-glyceric aciduria is a metabolic disorder characterized by D-glyceric acid excretion. It has been described in several patients. Clinical findings include progressive neurological impairment, hypotonia, seizures, failure to thrive and metabolic acidosis. Some patients had hyperglycinemia secondary to the organic acidemia. However, some of the reported patients were asymptomatic. D-glyceric aciduria is caused by D-glycerate kinase deficiency. The GLYCTK gene has been mapped to 3p21.

D-GLYCERIC ACIDURIA Is also known as d-glyceric acidemia|d-glycerate kinase deficiency|glycerate kinase deficiency

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about D-GLYCERIC ACIDURIA

3-methylcrotonyl-CoA carboxylase deficiency (3-MCCD) is an inherited disorder of leucine metabolism characterized by a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults.

3-METHYLCROTONYL-COA CARBOXYLASE DEFICIENCY Is also known as mcc1 deficiency|3-methylcrotonylglycinuria i|mccd|3-methylcrotonylglycinuria|methylcrotonylglycinuria type i|mccd type 1|mcc deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 3-METHYLCROTONYL-COA CARBOXYLASE 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

NEMMLAS is an autosomal recessive multisystemic disorder characterized by delayed psychomotor development, intellectual disability, and abnormal motor function, including hypotonia, dystonia, ataxia, and spasticity. Patient tissues may show deficiencies in one or more of the mitochondrial oxidative phosphorylation (OXPHOS) enzymes, but this is not a constant finding (summary by Wortmann et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES; NEMMLAS

Top 5 symptoms//phenotypes associated to Hyperreflexia and Hyperglycemia

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Growth delay

Uncommon Symptoms - Between 30% and 50% cases

Spasticity Hypoglycemia Acidosis Encephalopathy Metabolic acidosis Muscular hypotonia of the trunk Tetraplegia Hearing impairment Intellectual disability, severe Sensorineural hearing impairment Athetosis Delayed myelination Ketoacidosis Diabetes mellitus Microcephaly Feeding difficulties Muscle weakness Skeletal muscle atrophy Areflexia Tremor Apnea Ataxia Edema

Rare Symptoms - Less than 30% cases

Delayed speech and language development Hypothyroidism Leukodystrophy Respiratory failure Flexion contracture Drowsiness Delayed skeletal maturation Delayed puberty Coma Irritability Pneumonia Hypoplasia of the corpus callosum Neonatal hypotonia Full cheeks Dysmetria Brisk reflexes Ptosis Spastic tetraplegia Aciduria Intrauterine growth retardation Epileptic spasms Ventriculomegaly Muscular hypotonia Hepatomegaly Cerebral atrophy Vomiting Dystonia Type I diabetes mellitus Blue sclerae Hypertonia Respiratory distress Opisthotonus Hyperammonemia Dysarthria Proptosis Epicanthus Cerebral cortical atrophy Postprandial hyperglycemia Increased serum lactate Lactic acidosis Cerebellar atrophy Optic atrophy Strabismus Nystagmus Poor eye contact Lower limb muscle weakness Severe global developmental delay Hyporeflexia Cryptorchidism Cardiomyopathy Short stature Respiratory insufficiency Bilateral camptodactyly Congenital hip dislocation Insulin resistance Pallor Weak cry Abnormality of the eye Narrow face Upper eyelid edema Agenesis of corpus callosum Glucose intolerance Visual loss Abnormality of eye movement Glycosuria Hyperinsulinemia Retroperitoneal fibrosis Respiratory insufficiency due to muscle weakness Infantile muscular hypotonia Bulbar palsy Peripheral neuropathy Cervical lymphadenopathy Seborrheic keratosis Multiple joint contractures Lumbar hyperlordosis Progressive muscle weakness Dilated cardiomyopathy Myopathy Difficulty running Dysphagia High palate Scoliosis Osteopenia Vegetative state Proximal muscle weakness Joint laxity Facial palsy Demyelinating peripheral neuropathy Central apnea Muscular dystrophy Muscle fibrillation Ophthalmoplegia Retinal degeneration Progressive hearing impairment Limb muscle weakness Long face Hirsutism Generalized muscle weakness Waddling gait Increased body weight Bradycardia Progressive microcephaly Decreased fetal movement Generalized-onset seizure Atrial fibrillation Clumsiness Retinal dystrophy Centrally nucleated skeletal muscle fibers Optic nerve hypoplasia Insulin-resistant diabetes mellitus Renal tubular acidosis Proximal renal tubular acidosis Cystinuria Increased serum pyruvate Hyperalaninemia Dysgraphia Periventricular leukomalacia CNS hypomyelination Necrotizing encephalopathy Tachypnea Clonus Renal insufficiency Congestive heart failure Macrocephaly Motor delay Abnormality of leucine metabolism Increased head circumference Periventricular cysts Episodic metabolic acidosis Neurological speech impairment Multifocal seizures Diffuse cerebral atrophy Limb hypertonia Generalized amyotrophy Leukoencephalopathy Exotropia Amblyopia Aggressive behavior Chronic metabolic acidosis Rigidity Rod-cone dystrophy Thrombocytopenia Absent speech Visual impairment Neuronal loss in the cerebral cortex Congenital lactic acidosis Acute hyperammonemia Acute hepatic steatosis Nemaline bodies Autistic behavior Glutaric aciduria Hyperglycinemia Severe failure to thrive Neonatal respiratory distress Snoring Aminoaciduria Hypsarrhythmia Myoclonus Diarrhea Hypoglycemic seizures Hyperinsulinemic hypoglycemia Vertigo Type 1 fibers relatively smaller than type 2 fibers Spinal deformities Abnormal glucose tolerance Limb joint contracture Nonketotic hyperglycinemia Gastroesophageal reflux Neutrophilia Hemiparesis Organic aciduria Abnormality of the cerebral vasculature Ketonuria Poor appetite Failure to thrive in infancy Cerebral palsy Involuntary movements Intellectual disability, profound Feeding difficulties in infancy Focal-onset seizure Brain atrophy Gliosis Nausea Abnormality of movement Lethargy Stroke Stiff skin Enlarged kidney Episcleritis Small for gestational age Oligodontia Truncal ataxia Abnormal vertebral morphology Fine hair Renal hypoplasia Hypotelorism Round face Downturned corners of mouth Sparse hair Hypoplasia of the brainstem Hyperlordosis Kyphoscoliosis Macrotia Narrow mouth Gait ataxia Pectus excavatum Downslanted palpebral fissures Micrognathia Polydipsia Polyuria Thyrotoxicosis with toxic single thyroid nodule Wide nasal bridge Splenomegaly Intellectual disability, mild Atrial septal defect Hydrocephalus Anteverted nares Ventricular septal defect Frontal bossing Fever Brachydactyly High pitched voice Anemia Hypertelorism Increased vertebral height Kinetic tremor Recurrent hypoglycemia Prominent superficial veins Maternal diabetes Down-sloping shoulders Thyrotoxicosis with toxic multinodular goitre Transient hypophosphatemia Clinodactyly EMG abnormality Prolonged QT interval Mildly elevated creatine phosphokinase Hyperkalemia Ventricular fibrillation Myotonia Ophthalmoparesis Hypokalemia Goiter Muscle stiffness Rhabdomyolysis Palpitations Muscle cramps Tachycardia Paralysis Weight loss Hyperhidrosis Constipation Obesity Hyperthyroidism Thyroiditis Decreased urinary potassium Increased intramyocellular lipid droplets Episodic hypokalemia Thyrotoxicosis with diffuse goiter Second degree atrioventricular block Episodic flaccid weakness Respiratory paralysis Late-onset proximal muscle weakness Exercise-induced muscle fatigue Periodic hypokalemic paresis Shortened PR interval Hashimoto thyroiditis Impaired myocardial contractility Abnormality of muscle fibers Periodic paralysis Urinary retention Abnormality of peripheral nerve conduction Graves disease Heat intolerance Hypomagnesemia Hernia Patent ductus arteriosus Panniculitis Leukocytosis Episodic fever Polycythemia Scleroderma Lipoatrophy Microcytic anemia Elevated erythrocyte sedimentation rate Increased antibody level in blood Hallux valgus Stridor Exocrine pancreatic insufficiency Psoriasiform dermatitis Lipodystrophy Sleep apnea Azoospermia Plagiocephaly Osteolysis Elbow flexion contracture Hypergonadotropic hypogonadism Severe sensorineural hearing impairment Hypertension Gynecomastia Chronic rhinitis Facial telangiectasia Myelofibrosis Generalized lymphadenopathy Corneal arcus Hyperplasia of the maxilla Broad finger Pancreatic hypoplasia Abnormality of cardiovascular system physiology Reticulocytopenia Abnormal eyebrow morphology Histiocytosis Skin nodule Nasal obstruction Recurrent pharyngitis Decreased serum testosterone level Communicating hydrocephalus Varicose veins Aspiration pneumonia Aspiration Hyperpigmentation of the skin Abnormal heart morphology Conductive hearing impairment Malabsorption Hypotrichosis Pectus carinatum Retinopathy Abnormal cardiac septum morphology Abnormality of the kidney Camptodactyly Low-set, posteriorly rotated ears Hepatosplenomegaly Lymphadenopathy Pes planus Dyspnea Micropenis Hyperkeratosis Hypogonadism Posteriorly rotated ears Severe short stature Alopecia Abnormality of the foot Ichthyosis Gingival overgrowth Bilateral sensorineural hearing impairment Telangiectasia Bronchiectasis Primary amenorrhea Hypertrichosis Hypertriglyceridemia Epistaxis Epidermal acanthosis Cardiomegaly Mitral valve prolapse Cleft upper lip Overgrowth Amenorrhea Decreased testicular size Wide intermamillary distance Growth hormone deficiency Recurrent fractures Polyneuropathy Flat face Mitochondrial encephalopathy


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