Dysarthria, and Hyperglycemia

Diseases related with Dysarthria and Hyperglycemia

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

Top matches:

Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness.

MATERNALLY-INHERITED DIABETES AND DEAFNESS Is also known as ballinger-wallace syndrome|diabetes-deafness syndrome, maternally transmitted|mitochondrial diabetes|noninsulin-dependent diabetes mellitus with deafness|niddm with deafness|diabetes mellitus, type ii, with deafness|midd

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about MATERNALLY-INHERITED DIABETES AND DEAFNESS

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 COSTELLO SYNDROME

Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors.

COSTELLO SYNDROME Is also known as fcs syndrome|faciocutaneoskeletal syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about COSTELLO SYNDROME

Other less relevant matches:

Essential tremor may be the most common human movement disorder. The main feature of essential tremor is postural tremor of the arms, but the head, legs, trunk, voice, jaw, and facial muscles also may be involved. Aggravated by emotions, hunger, fatigue, and temperature extremes, the condition may cause a functional disability or even incapacitation. Autosomal dominant inheritance can be demonstrated in most families (summary by Higgins et al., 1997).Deng et al. (2007) provided a detailed review of the genetics of essential tremor. Genetic Heterogeneity of Essential TremorOther forms of hereditary essential tremor include ETM2 (OMIM ), mapped to chromosome 2p25-p22; ETM3 (OMIM ), mapped to chromosome 6p23; ETM4 (OMIM ), caused by mutation in the FUS gene (OMIM ) on chromosome 16p11; and ETM5 (OMIM ), caused by mutation in the TENM4 gene (OMIM ) on chromosome 11q14.

TREMOR, HEREDITARY ESSENTIAL, 1; ETM1 Is also known as fet1|tremor, familial essential, 1

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Cognitive impairment
  • Dysarthria
  • Fever


SOURCES: OMIM MENDELIAN

More info about TREMOR, HEREDITARY ESSENTIAL, 1; ETM1

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Ataxia
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about POLYENDOCRINE-POLYNEUROPATHY SYNDROME

Medium match CLASSIC GALACTOSEMIA

Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease.

CLASSIC GALACTOSEMIA Is also known as galt deficiency|galactose-1-phosphate uridyltransferase deficiency|galactosemia type 1

Related symptoms:

  • Intellectual disability
  • Ataxia
  • Failure to thrive
  • Cataract
  • Feeding difficulties


SOURCES: ORPHANET MENDELIAN

More info about CLASSIC GALACTOSEMIA

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 ALG6-CDG

ALG6-CDG is a form of congenital disorders of N-linked glycosylation characterized by feeding problems, mild-to-moderate neurologic involvement with hypotonia, poor head control, developmental delay, ataxia, strabismus, and seizures, ranging from febrile convulsions to epilepsy. Retinal degeneration has also been reported. A minority of patients show other manifestations, particularly intestinal (such as protein-losing enteropathy) and liver involvement. The disease is caused by loss of function mutations of the gene ALG6 (1p31.3).

ALG6-CDG Is also known as cdg1c|cdg ic|cdgs5, formerly|cdg-ic|carbohydrate-deficient glycoprotein syndrome, type i, with deficient glycosylation of dolichol-linked oligosaccharide, formerly|cdgic|congenital disorder of glycosylation type 1c|carbohydrate-deficient glycoprotein synd

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about ALG6-CDG

Adult-onset autosomal dominant leukodystrophy (ADLD) is a rare slowly progressive neurological disorder involving centralnervous systemdemyelination, leading to autonomic dysfunction,ataxia and mild cognitive impairment.

ADULT-ONSET AUTOSOMAL DOMINANT LEUKODYSTROPHY Is also known as adld|adult-onset autosomal dominant demyelinating leukodystrophy|pelizaeus-merzbacher disease, autosomal dominant or late-onset type, formerly

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Spasticity


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ADULT-ONSET AUTOSOMAL DOMINANT LEUKODYSTROPHY

HSD10 mitochondrial disease most commonly presents as an X-linked neurodegenerative disorder with highly variable severity and age at onset ranging from the neonatal period to early childhood. The features are usually multisystemic, consistent with mitochondrial dysfunction. Some affected males have a severe infantile form associated with cardiomyopathy that may result in death in early childhood, whereas other rare patients may have juvenile onset or even atypical presentations with normal neurologic development. More severely affected males show developmental regression in infancy or early childhood, often associated with early-onset intractable seizures, progressive choreoathetosis and spastic tetraplegia, optic atrophy or retinal degeneration resulting in visual loss, and mental retardation. Heterozygous females may show non-progressive developmental delay and intellectual disability, but may also be clinically normal. Although the diagnosis can be aided by the observation of increased urinary levels of metabolites of isoleucine breakdown (2-methyl-3 hydroxybutyrate and tiglylglycine), there is not a correlation between these laboratory features and the phenotype. In addition, patients do not develop severe metabolic crises in the neonatal period as observed in other organic acidurias, but may show persistent lactic acidosis, most likely reflecting mitochondrial dysfunction (summary by Rauschenberger et al., 2010; review by Zschocke, 2012).In a review of the disorder, Zschocke (2012) noted that although this disorder was originally thought to be an inborn error of branched-chain fatty acid and isoleucine metabolism resulting from decreased HSD17B10 dehydrogenase activity (HSD17B10 'deficiency'), subsequent studies have shown that the HSD17B10 gene product has additional functions and also acts as a component of the mitochondrial RNase P holoenzyme, which is involved in mitochondrial tRNA processing and maturation and ultimately mitochondrial protein synthesis. The multisystemic features of HSD10MD most likely result from the adverse effect of HSD17B10 mutations on mitochondrial function, rather than from the effects on the dehydrogenase activity (see PATHOGENESIS below).

HSD10 MITOCHONDRIAL DISEASE; HSD10MD Is also known as hsd17b10 deficiency|mhbd deficiency|2-methyl-3-hydroxybutyryl-coa dehydrogenase deficiency|camr|mental retardation with chorioathetosis and abnormal behavior|mental retardation, x-linked, syndromic 10|17-beta-hydroxysteroid dehydrogenase x deficiency|chor

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about HSD10 MITOCHONDRIAL DISEASE; HSD10MD

Top 5 symptoms//phenotypes associated to Dysarthria and Hyperglycemia

Symptoms // Phenotype % cases
Hypoglycemia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Tremor

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay Generalized hypotonia Failure to thrive Muscular hypotonia Nystagmus Cognitive impairment Cerebral cortical atrophy Motor delay Growth delay Short stature Cerebral atrophy Intellectual disability, mild Intellectual disability, severe Encephalopathy Dysphagia Renal insufficiency Sensorineural hearing impairment Gait disturbance Dystonia Rigidity Cardiomyopathy Abnormality of movement Myopathy Diabetes mellitus Hypertrophic cardiomyopathy

Rare Symptoms - Less than 30% cases

Strabismus Spastic tetraparesis Kinetic tremor Feeding difficulties Ketoacidosis Type I diabetes mellitus Delayed speech and language development Full cheeks Progressive neurologic deterioration Tetraparesis Hepatomegaly Blindness Macrocephaly Lactic acidosis Depressivity Mental deterioration Personality changes Abnormal pyramidal sign Hepatic failure Vomiting Sepsis Acidosis Tetraplegia Metabolic acidosis Visual loss Leukodystrophy Athetosis Hypermetropia Postnatal growth retardation Intellectual disability, moderate Delayed puberty Hypogonadism Osteoporosis Pes cavus Edema Dysmetria Absent speech Constipation Optic atrophy Hypothyroidism Gait ataxia Delayed skeletal maturation Epicanthus Cryptorchidism Pectus excavatum Congestive heart failure Kyphoscoliosis Arrhythmia Micrognathia Hypertension Spasticity Retinal degeneration Sparse hair Ptosis Downslanted palpebral fissures Cataract Head tremor Hand tremor Corpus callosum atrophy Resting tremor Postural tremor Abnormality of extrapyramidal motor function Migraine Parkinsonism Anxiety Dementia Abnormal mitochondrial morphology Fatigue Memory impairment Progressive hearing impairment Cerebellar hypoplasia Decreased fertility in females Agitation Restlessness Mitochondrial myopathy Pneumonia Diffuse cerebral atrophy Gastrointestinal dysmotility Respiratory distress Impairment of galactose metabolism Speech articulation difficulties Abnormality of the ovary Polyneuropathy Speech apraxia Abnormal bleeding Loss of ability to walk Nausea and vomiting Lethargy Jaundice Weight loss Central hypothyroidism Glucose intolerance Increased corneal curvature Fever Tendon rupture Systolic heart murmur Hematemesis Body odor Ulnar deviation of the wrist Duodenal ulcer Abnormal pulmonary valve morphology Bladder neoplasm Capillary malformation Triangular mouth Melena Deep plantar creases Shyness Thin nail Large face Papilloma Bronchomalacia Fetal distress Limited elbow movement Abnormality of earlobe Schwannoma Broad femoral neck Postprandial hyperglycemia Hypopnea Thickened Achilles tendon Bladder carcinoma Congenital neuroblastoma Lymphangiectasis Alveolar rhabdomyosarcoma Vitreomacular adhesion Myofiber disarray Enlarged cerebellum Macrocephaly at birth Loose anagen hair Cardiomyocyte hypertrophy Choroid plexus papilloma Concentric hypertrophic cardiomyopathy Persistent lactic acidosis Neonatal sepsis Multifocal atrial tachycardia Embryonal rhabdomyosarcoma Deep-set nails Vestibular Schwannoma Frontal hirsutism Ganglioneuroblastoma Transitional cell carcinoma of the bladder Abnormality of mitochondrial metabolism Horizontal nystagmus Increased serum lactate Paraplegia Orthostatic hypotension due to autonomic dysfunction Progressive cerebellar ataxia Abnormal cerebellum morphology Confusion Diffuse leukoencephalopathy Lower limb muscle weakness Autonomic bladder dysfunction Autonomic erectile dysfunction Cervical spinal cord atrophy Urinary incontinence Limb muscle weakness Dilatation of the bladder Abnormality of the cerebral white matter Babinski sign Decreased sweating due to autonomic dysfunction Hypertonia Hyperreflexia Peripheral neuropathy Elevated serum transaminases during infections Gliosis Hypotension Reduced antithrombin III activity Abnormality of the urinary system Heat intolerance Neurogenic bladder Action tremor Orthostatic hypotension Progressive spasticity Bowel incontinence Urinary urgency Impotence Apathy Leukoencephalopathy Diffuse white matter abnormalities Pseudobulbar paralysis Spastic paraparesis Paraparesis Abnormal autonomic nervous system physiology Limb ataxia Hypohidrosis Hemiparesis Atrophy of the spinal cord Peripheral demyelination Reduced factor XI activity Symmetric peripheral demyelination Drooling Cystinuria Neuronal loss in the cerebral cortex Congenital lactic acidosis Chronic metabolic acidosis Spastic tetraplegia Periventricular cysts Necrotizing encephalopathy Increased head circumference Proximal renal tubular acidosis Choreoathetosis Increased serum pyruvate Aciduria Hyperalaninemia Hallucinations Dysgraphia Periventricular leukomalacia Renal tubular acidosis CNS hypomyelination Hyperammonemia Tachypnea Clonus Dehydration Recurrent infections Increased serum testosterone level Developmental regression Myoclonus Frontal balding Type I transferrin isoform profile Aggressive behavior Protein-losing enteropathy Hyperextensibility of the finger joints Hyperinsulinemic hypoglycemia Alopecia of scalp Partial agenesis of the corpus callosum Polycystic ovaries Areflexia Abnormal intestine morphology Neurological speech impairment Cerebral visual impairment Neurodegeneration Chorea Broad-based gait Intention tremor Muscular hypotonia of the trunk Agenesis of corpus callosum Rhabdomyosarcoma Ulnar deviation of finger Pneumothorax Myopia Hydrocephalus Short neck Respiratory insufficiency Anteverted nares Ventriculomegaly Talipes equinovarus Ventricular septal defect Abnormality of the skeletal system Frontal bossing Depressed nasal bridge Abnormality of the dentition High palate Low-set ears Abnormal facial shape Neoplasm Hypertelorism Scoliosis Increased vertebral height Recurrent hypoglycemia Prominent superficial veins Maternal diabetes Atrial septal defect Short nose High pitched voice Gastroesophageal reflux Wide mouth Irritability Feeding difficulties in infancy Apnea Low-set, posteriorly rotated ears Joint laxity Abnormality of the nervous system Carcinoma Coarse facial features Osteopenia Polyhydramnios Long philtrum Proptosis Hyperkeratosis Respiratory failure Hyperhidrosis Posteriorly rotated ears Severe short stature Inguinal hernia Abnormal heart morphology Hernia Abnormality of cardiovascular system morphology Down-sloping shoulders Brisk reflexes Arthrogryposis multiplex congenita Bilateral sensorineural hearing impairment Macular dystrophy Vestibular dysfunction Bundle branch block Aplasia/Hypoplasia of the cerebellum Constriction of peripheral visual field Ragged-red muscle fibers External ophthalmoplegia Pancytopenia Type II diabetes mellitus Pigmentary retinopathy Progressive sensorineural hearing impairment Vertigo Unsteady gait Malabsorption Ophthalmoplegia Retinopathy Abnormality of the kidney Proteinuria Myalgia Visual impairment Muscle weakness Abnormal retinal morphology Glomerulopathy Polyuria Delayed myelination Hypoplasia of the brainstem Polydipsia Oligodontia Truncal ataxia Abnormal vertebral morphology Fine hair Renal hypoplasia Blue sclerae Hypotelorism Round face Downturned corners of mouth Retinal atrophy Small for gestational age Hyperlordosis Macrotia Narrow mouth Hypoplasia of the corpus callosum Intrauterine growth retardation Microcephaly Abnormal chorioretinal morphology Left bundle branch block Abnormality of lipid metabolism Pectus carinatum Pulmonic stenosis Concave nail Keratoconus Neonatal hypoglycemia Arnold-Chiari type I malformation Syringomyelia Central hypotonia Tracheomalacia Generalized hyperpigmentation Rhabdomyolysis Neuroblastoma Curly hair Reduced subcutaneous adipose tissue Obstructive sleep apnea Neurodevelopmental delay Large for gestational age Rocker bottom foot Tricuspid regurgitation Hypoplastic toenails Bilateral cryptorchidism Heart murmur Pleural effusion Aortic aneurysm Failure to thrive in infancy Soft skin Severe postnatal growth retardation Pyloric stenosis Central apnea Hypoplasia of teeth Fasting hypoglycemia Broad philtrum Abnormal mitral valve morphology Asymmetric septal hypertrophy Deep palmar crease Labial hypoplasia Redundant neck skin Abnormality of the testis Lack of skin elasticity Verrucae Microscopic hematuria Large forehead Achilles tendon contracture Thick upper lip vermilion Large earlobe Woolly hair Progeroid facial appearance Barrel-shaped chest Megalencephaly Fragile nails Thickened nuchal skin fold Redundant skin Hyperextensible skin Joint hyperflexibility Nevus Apraxia Mitral valve prolapse Eczema Overgrowth Hip dysplasia Abnormality of the skin Growth hormone deficiency Webbed neck Premature birth Macroglossia Thick lower lip vermilion Ascites Postural instability Sleep disturbance High, narrow palate Hematuria Thick vermilion border Wide nose Tachycardia Joint hypermobility Astigmatism Epidermal acanthosis Atrial fibrillation Poor suck Abnormality of dental enamel Laryngomalacia Relative macrocephaly Arnold-Chiari malformation Hemangioma Infantile muscular hypotonia Abnormal dermatoglyphics Cutis laxa Acanthosis nigricans Abnormality of the fingernails Short chin Narrow palate Hypoplasia of dental enamel Pointed chin Hoarse voice Abnormality of the hair Cafe-au-lait spot Hydrops fetalis Lymphedema Wide anterior fontanel Hyperpigmentation of the skin Long eyelashes Decreased body weight Progressive choreoathetosis


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