Dysarthria, and Hypoglycemia

Diseases related with Dysarthria and Hypoglycemia

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

Top 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

Other less relevant matches:

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

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

Medium match TRIPLE A 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

3-methylglutaconic aciduria (3-MGA) type I is an inborn error of leucine metabolism with a variable clinical phenotype ranging from mildly delayed speech to psychomotor retardation, coma, failure to thrive, metabolic acidosis and dystonia.

3-METHYLGLUTACONIC ACIDURIA TYPE 1 Is also known as 3-methylglutaconyl-coa hydratase deficiency|3mg-coa hydratase deficiency|mga1|3-mg-coa-hydratase deficiency|mga, type i

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about 3-METHYLGLUTACONIC ACIDURIA TYPE 1

Top 5 symptoms//phenotypes associated to Dysarthria and Hypoglycemia

Symptoms // Phenotype % cases
Ataxia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability 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 Hypoglycemia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Dystonia Cognitive impairment Tremor Encephalopathy Metabolic acidosis Generalized hypotonia Muscular hypotonia Acidosis Optic atrophy Gait disturbance Failure to thrive Spastic tetraparesis Cerebral atrophy Neurodegeneration Abnormality of movement Nystagmus Microcephaly Athetosis Confusion Lactic acidosis Tetraparesis Hyperreflexia Spastic tetraplegia Cardiomyopathy Gait ataxia Visual loss Dysphagia Sensorineural hearing impairment Short stature Rigidity Fatigue Motor delay Dementia

Rare Symptoms - Less than 30% cases

Parkinsonism Urinary incontinence Delayed speech and language development Hypotension Mental deterioration Hypothyroidism Progressive neurologic deterioration Hyperammonemia Abnormal autonomic nervous system physiology Clonus Leukodystrophy Paraparesis Limb ataxia Abnormal cerebellum morphology Progressive cerebellar ataxia Paraplegia Abnormality of the cerebral white matter Cerebral cortical atrophy Blindness Recurrent infections Babinski sign Memory impairment Intellectual disability, mild Oral-pharyngeal dysphagia Peripheral neuropathy Spasticity Personality changes Tachycardia Arrhythmia Spastic paraparesis Increased serum lactate Growth delay Orthostatic hypotension Abnormal pyramidal sign Polyneuropathy Myopathy Absent speech Depressivity Cataract Feeding difficulties Weight loss Hypertrophic cardiomyopathy Developmental regression Hepatic failure Tetraplegia Aciduria Muscle weakness Intellectual disability, severe Pes cavus Leukoencephalopathy Drooling Vomiting Choreoathetosis Hepatomegaly Restlessness Hyperchloremic acidosis Persistent lactic acidosis Abnormal mitochondrial morphology Progressive choreoathetosis Myoclonus Abnormality of the basal ganglia 3-Methylglutaconic aciduria Loss of ability to walk Hallucinations Horizontal nystagmus Dehydration Gastrointestinal dysmotility Aggressive behavior Abnormality of mitochondrial metabolism Diffuse cerebral atrophy Neurological speech impairment Testicular dysgenesis Nonprogressive cerebellar ataxia Agitation Retinal degeneration Chorea Mitochondrial myopathy Spastic diplegia Skeletal myopathy Decreased circulating cortisol level Febrile seizures Palmoplantar hyperkeratosis Adrenal insufficiency Ectopic kidney Generalized hyperpigmentation Primary adrenal insufficiency Coma Neutropenia Abnormality of visual evoked potentials Motor axonal neuropathy Achalasia Anterior hypopituitarism Hyperpigmentation of the skin Decreased circulating aldosterone level Alacrima Plantar hyperkeratosis Anisocoria Abnormality of the calf musculature Abnormality of the hypothenar eminence Unsteady gait Adrenocorticotropin receptor defect Hyperactivity Gastroesophageal reflux Severe global developmental delay Dilated cardiomyopathy Progressive visual loss Palmoplantar keratoderma Elevated serum creatine phosphokinase Torsade de pointes Elevated hepatic transaminase Nephropathy Cardiac arrest Ventricular tachycardia Ventricular fibrillation Myopathic facies Spastic paraplegia Rhabdomyolysis Hyperactive deep tendon reflexes Myoglobinuria Poor coordination Ketonuria Prolonged QTc interval Short attention span Acute rhabdomyolysis Premature pubarche Elevated plasma acylcarnitine levels Premature thelarche Visual impairment Skeletal muscle atrophy Respiratory insufficiency Hyperhidrosis Hyperkeratosis Abnormality of the nervous system Peripheral axonal neuropathy Iris coloboma Dilatation Gliosis Symmetric peripheral demyelination CNS hypomyelination Decreased fertility in females Speech articulation difficulties Impairment of galactose metabolism Macrocephaly Respiratory distress Congestive heart failure Renal insufficiency Pneumonia Tachypnea Renal tubular acidosis Speech apraxia Ketoacidosis Periventricular leukomalacia Dysgraphia Hyperalaninemia Increased serum pyruvate Cystinuria Proximal renal tubular acidosis Increased head circumference Necrotizing encephalopathy Periventricular cysts Abnormality of the ovary Sepsis Congenital lactic acidosis Hypogonadism Fever Anxiety Migraine Abnormality of extrapyramidal motor function Postural tremor Resting tremor Hand tremor Head tremor Kinetic tremor Cerebellar hypoplasia Diabetes mellitus Abnormal bleeding Intellectual disability, moderate Postnatal growth retardation Type I diabetes mellitus Progressive hearing impairment Glucose intolerance Central hypothyroidism Osteoporosis Jaundice Lethargy Nausea and vomiting Chronic metabolic acidosis Neuronal loss in the cerebral cortex Decreased sweating due to autonomic dysfunction Heat intolerance Hemiparesis Hypohidrosis Abnormality of the urinary system Apathy Impotence Urinary urgency Bowel incontinence Progressive spasticity Action tremor Corpus callosum atrophy Lower limb muscle weakness Neurogenic bladder Pseudobulbar paralysis Atrophy of the spinal cord Diffuse white matter abnormalities Orthostatic hypotension due to autonomic dysfunction Diffuse leukoencephalopathy Autonomic bladder dysfunction Autonomic erectile dysfunction Cervical spinal cord atrophy Dilatation of the bladder Peripheral demyelination Limb muscle weakness Strabismus Polycystic ovaries Edema Areflexia Agenesis of corpus callosum Muscular hypotonia of the trunk Hypermetropia Dysmetria Intention tremor Broad-based gait Cerebral visual impairment Abnormal intestine morphology Partial agenesis of the corpus callosum Constipation Alopecia of scalp Hyperinsulinemic hypoglycemia Protein-losing enteropathy Type I transferrin isoform profile Frontal balding Increased serum testosterone level Reduced antithrombin III activity Reduced factor XI activity Elevated serum transaminases during infections Hypertonia Progressive forgetfulness


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