Muscular hypotonia, and Dehydration

Diseases related with Muscular hypotonia and Dehydration

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

Top matches:

Infantile hypercalcemia is characterized by severe hypercalcemia with failure to thrive, vomiting, dehydration, and nephrocalcinosis (summary by Schlingmann et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of infantile hypercalcemia, see HCINF1 (OMIM ).

Related symptoms:

  • Failure to thrive
  • Muscular hypotonia
  • Vomiting
  • Dehydration
  • Recurrent urinary tract infections


SOURCES: OMIM MENDELIAN

More info about HYPERCALCEMIA, INFANTILE, 2; HCINF2

Autosomal recessive infantile hypercalcemia is a rare, genetic, phosphocalcic metabolism disorder characterized by early-onset hypercalcemia, hypophosphatemia, hypercalciuria, decreased intact parathyroid hormone serum levels and medullary nephrocalcinosis, typically manifesting with failure to thrive, hypotonia, vomiting, constipation and/or polyuria.

AUTOSOMAL RECESSIVE INFANTILE HYPERCALCEMIA Is also known as familial infantile hypercalcemia with suppressed intact parathyroid hormone|hypercalcemia, idiopathic, of infancy

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Failure to thrive
  • Muscular hypotonia
  • Vomiting


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE INFANTILE HYPERCALCEMIA

Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where 30% of filtered salt is normally reabsorbed (Simon et al., 1997).Patients with antenatal (or neonatal) forms of Bartter syndrome (e.g., BARTS1, {601678}) typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by Simon et al., 1996 and Fremont and Chan, 2012).For a discussion of genetic heterogeneity of Bartter syndrome, see {607364}.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Failure to thrive
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS; BARTS4B

Other less relevant matches:

Dopamine beta-hydroxylase deficiency is an extremely rare genetic metabolic disorder characterized by autonomic dysregulation leading mainly to orthostatic hypotension.

DOPAMINE BETA-HYDROXYLASE DEFICIENCY Is also known as norepinephrine deficiency|noradrenaline deficiency

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Muscular hypotonia
  • Pain
  • Ptosis


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DOPAMINE BETA-HYDROXYLASE DEFICIENCY

Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where 30% of filtered salt is normally reabsorbed (Simon et al., 1997).Patients with antenatal (or neonatal) forms of Bartter syndrome typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome (see BARTS3, {607364}) present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by Simon et al., 1996 and Fremont and Chan, 2012).For a discussion of genetic heterogeneity of Bartter syndrome, see {607364}.

BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS; BARTS4A Is also known as bartter syndrome, neonatal, with sensorineural deafness|bsnd

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Hearing impairment
  • Failure to thrive
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS; BARTS4A

Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism. Different forms of isolated methylmalonic aciduria have been classified according to complementation groups of cells in vitro. Patients with defects in the synthesis of AdoCbl are usually responsive to vitamin B12 therapy and are classified as 'cbl' type: these include cblA and cblB (OMIM ), which is caused by mutation in the MMAB gene (OMIM ) on 12q24. See also cblH (OMIM ), which may be a subset of cblA. The 'mut' form of MMA (OMIM ) is caused by mutation in the MUT gene on chromosome 6p. In general, the mut form of MMA is unresponsive to vitamin B12 therapy.Combined methylmalonic aciduria and homocystinuria may be seen in complementation groups cblC (OMIM ), cblD (OMIM ), cblF (OMIM ), and cblJ (OMIM ).

VITAMIN B12-RESPONSIVE METHYLMALONIC ACIDEMIA TYPE CBLA Is also known as methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cbla type|vitamin b12-responsive methylmalonic aciduria type cbla|methylmalonic acidemia, cbla type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Muscular hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about VITAMIN B12-RESPONSIVE METHYLMALONIC ACIDEMIA TYPE CBLA

Isobutyryl-CoA dehydrogenase deficiency is an inborn error of valine metabolism. The prevalence is unknown. Only one symptomatic patient (with anaemia, failure to thrive, dilated cardiomyopathy and plasma carnitine deficiency) has been described so far, but several series of patients have been identified through newborn screening programs relying on detection of increased C(4)-carnitine levels by tandem mass spectrometry. The disorder is caused by mutations in the ACAD8 gene (11q25).

ISOBUTYRYL-COA DEHYDROGENASE DEFICIENCY Is also known as ibd deficiency|acad8 deficiency|acyl-coa dehydrogenase family, member 8, deficiency of|isobutyric aciduria

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Muscular hypotonia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ISOBUTYRYL-COA DEHYDROGENASE DEFICIENCY

Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism. Different forms of isolated methylmalonic aciduria have been classified according to complementation groups of cells in vitro. Patients with defects in the synthesis of AdoCbl are usually responsive to vitamin B12 therapy and are classified as 'cbl' type: these include cblB and cblA (OMIM ). The cblA type is caused by mutation in the MMAA gene (OMIM ). The 'mut' type (OMIM ) is caused by mutation in the MUT gene; in general, the mut form of MMA is unresponsive to vitamin B12 therapy.Combined methylmalonic aciduria and homocystinuria may be seen in complementation groups cblC (OMIM ), cblD (OMIM ), and cblF (OMIM ).

VITAMIN B12-RESPONSIVE METHYLMALONIC ACIDEMIA TYPE CBLB Is also known as vitamin b12-responsive methylmalonic aciduria, type cblb|methylmalonic acidemia, cblb type|methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cblb type

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about VITAMIN B12-RESPONSIVE METHYLMALONIC ACIDEMIA TYPE CBLB

Combined malonic and methylmalonic acidemia is a rare inborn error of metabolism characterized by elevation of malonic acid (MA) and methylmalonic acid (MMA) in body fluids, with higher levels of MMA than MA. CMAMMA presents in childhood with metabolic acidosis, developmental delay, dystonia and failure to thrive or in adulthood with seizures, memory loss and cognitive decline.

COMBINED MALONIC AND METHYLMALONIC ACIDEMIA Is also known as combined malonic and methylmalonic aciduria|cmamma

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about COMBINED MALONIC AND METHYLMALONIC ACIDEMIA

Overhydrated hereditary stomatocytosis (OHSt) is a disorder of red cell membrane permeability to monovalent cations and is characterized clinically by hemolytic anemia.

OVERHYDRATED HEREDITARY STOMATOCYTOSIS Is also known as ohs|potassium-sodium disorder of erythrocyte

Related symptoms:

  • Generalized hypotonia
  • Pain
  • Anemia
  • Hepatomegaly
  • Fever


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about OVERHYDRATED HEREDITARY STOMATOCYTOSIS

Top 5 symptoms//phenotypes associated to Muscular hypotonia and Dehydration

Symptoms // Phenotype % cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Failure to thrive Common - Between 50% and 80% cases
Vomiting Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Hypercalciuria Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Muscular hypotonia and Dehydration. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Polyuria Global developmental delay Anemia Intellectual disability Aciduria Acidosis Lethargy Methylmalonic aciduria Feeding difficulties Hepatomegaly Edema Methylmalonic acidemia Nephrocalcinosis Coma

Rare Symptoms - Less than 30% cases

Hypochloremia Fetal polyuria Increased urinary potassium Hyperchloriduria Hypokalemic hypochloremic metabolic alkalosis Hypernatriuria Respiratory distress Pain Metabolic acidosis Neutropenia Feeding difficulties in infancy Hypoglycemia Thrombocytopenia Decreased glomerular filtration rate Abnormality of mitochondrial metabolism Hydrops fetalis Hypokalemic metabolic alkalosis Alkalosis Metabolic alkalosis Hyperammonemia Decreased methylmalonyl-CoA mutase activity Hypercalcemia Decreased adenosylcobalamin Hyperglycinemia Infantile hypercalcemia Medullary nephrocalcinosis Homocystinuria Diarrhea Ketonuria Nephrolithiasis Ketosis Pulmonic stenosis Pancytopenia Hyponatremia Motor delay Renal insufficiency Hyporeflexia Polyhydramnios Small for gestational age Premature birth Hypokalemia Renal salt wasting Sensorineural hearing impairment Hyperaldosteronism Abnormality of the mitochondrion Encephalopathy Ataxia Mild global developmental delay Neonatal hyperbilirubinemia Pyelonephritis Peripheral pulmonary artery stenosis Decreased plasma carnitine Cardiomegaly Asthma Microcephaly Cough Dystonia Reticulocytosis Nephropathy Hepatic steatosis Hyperbilirubinemia Brittle hair Pulmonary fibrosis Increased antibody level in blood Anisocytosis Lactic acidosis Spherocytosis Poikilocytosis Stomatocytosis Intermittent jaundice Sideroblastic anemia Congenital hemolytic anemia Increased red cell osmotic fragility Hemolytic anemia Atrial septal defect Pneumonia Ketoacidosis Elevated hepatic transaminase Muscular hypotonia of the trunk Mental deterioration Apnea Memory impairment Tachypnea Generalized clonic seizures Pallor Fever Splenomegaly Abdominal pain Jaundice Hepatosplenomegaly Rigidity Respiratory tract infection Dilated cardiomyopathy Abnormally large globe Cardiomyopathy Ptosis Epiphora Abnormal autonomic nervous system physiology Hypotension Syncope Vertigo Abnormality of the nervous system Myalgia Peripheral neuropathy Hypertension High palate Abnormality of metabolism/homeostasis Orthostatic hypotension Short stature Elfin facies Aortic valve stenosis Thick lower lip vermilion Abnormality of the eye Weight loss Renal phosphate wasting Hypoparathyroidism Hypophosphatemia Recurrent urinary tract infections Blurred vision Amyloidosis Delayed speech and language development Triangular face Tremor Reduced renal corticomedullary differentiation Hypochloremic metabolic alkalosis Global glomerulosclerosis Mesangial hypercellularity Hypokalemic alkalosis Tubulointerstitial fibrosis Congenital sensorineural hearing impairment Polydipsia Glomerulosclerosis Postural instability Neonatal hypoglycemia Stage 5 chronic kidney disease Protruding ear Prominent forehead Fatigue Hearing impairment Retrograde ejaculation Intermittent hypothermia Nocturia Multiple myeloma Recurrent hypoglycemia Hypothermia Increased intracellular sodium


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