Muscular hypotonia, and Pancreatitis

Diseases related with Muscular hypotonia and Pancreatitis

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

Top matches:

Vitamin B12-unresponsive methylmalonic acidemia type mut0 is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.

VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT0 Is also known as complete deficiency of methylmalonyl-coa mutase|vitamin b12-unresponsive methylmalonic aciduria type mut0

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Growth delay
  • Muscular hypotonia
  • Anemia


SOURCES: ORPHANET MENDELIAN

More info about VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT0

3-hydroxy-3-methylglutaric aciduria (3HMG) is an organic aciduria, due to deficiency of 3-hydroxy-3-methylglutaryl-CoA-lyase (a key enzyme in ketogenesis and leucine metabolism) usually presenting in infancy with episodes of metabolic decompensation triggered by periods of fasting or infections, which when left untreated are life-threatening and may lead to neurological sequelae.

3-HYDROXY-3-METHYLGLUTARIC ACIDURIA Is also known as hydroxymethylglutaric aciduria|hmg-coa lyase deficiency|3-hydroxy-3-methylglutaryl-coa lyase deficiency|hmgcl deficiency|hl deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Spasticity
  • Anemia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about 3-HYDROXY-3-METHYLGLUTARIC ACIDURIA

Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.

VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT- Is also known as vitamin b12-unresponsive methylmalonic aciduria type mut-|partial deficiency of methylmalonyl-coa mutase

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT-

Other less relevant matches:

DECR deficiency is a rare autosomal recessive inborn error of metabolism resulting in mitochondrial dysfunction. Affected individuals have a severe encephalopathy with neurologic and metabolic dysfunction beginning in early infancy. Laboratory studies show decreased activity of the mitochondrial NADP(H)-dependent enzymes DECR1 (OMIM ) and AASS (OMIM ), resulting in increased C10:2-carnitine levels and hyperlysinemia (summary by Houten et al., 2014).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about 2,4-DIENOYL-COA REDUCTASE DEFICIENCY; DECRD

Neutral lipid storage disease with myopathy is an autosomal recessive muscle disorder characterized by adult onset of slowly progressive proximal muscle weakness affecting the upper and lower limbs and associated with increased serum creatine kinase; distal muscle weakness may also occur. About half of patients develop cardiomyopathy later in the disease course. Other variable features include diabetes mellitus, hepatic steatosis, hypertriglyceridemia, and possibly sensorineural hearing loss. Leukocytes and muscle cells show cytoplasmic accumulation of triglycerides (summary by Reilich et al., 2011).Neutral lipid storage disease with myopathy belongs to a group of disorders termed neutral lipid storage disorders (NLSDs). These disorders are characterized by the presence of triglyceride-containing cytoplasmic droplets in leukocytes and in other tissues, including bone marrow, skin, and muscle. Chanarin-Dorfman syndrome (CDS ) is defined as NLSD with ichthyosis (NLSDI). Patients with NLSDM present with myopathy but without ichthyosis (summary by Fischer et al., 2007).

NEUTRAL LIPID STORAGE MYOPATHY Is also known as neutral lipid storage disease with myopathy without ichthyosis|nlsdm|triglyceride deposit cardiomyovasculopathy|neutral lipid storage disease without ichthyosis

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUTRAL LIPID STORAGE MYOPATHY

Progressive encephalopathy with leukodystrophy due to DECR deficiency is a rare mitochondrial disease, which presents with neonatal hypotonia, central nervous system abnormalities (ventriculomegaly, corpus callosum hypoplasia, cerebellar atrophy), acquired microcephaly, failure to thrive, developmental delay and intermittent lactic acidosis provoked by catabolic stress (e.g. infection). Hyperlysinemia and elevated C10:2 carnitine can be detected in plasma. Later on, epilepsy, cerebellar ataxia, renal tubular acidosis, severe encephalopathy, dystonia, spastic quadriplegia and other complications may develop.

PROGRESSIVE ENCEPHALOPATHY WITH LEUKODYSTROPHY DUE TO DECR DEFICIENCY Is also known as 2,4-dienoyl-coa reductase deficiency|decr deficiency with hyperlysinemia

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Nystagmus
  • Failure to thrive


SOURCES: ORPHANET MENDELIAN

More info about PROGRESSIVE ENCEPHALOPATHY WITH LEUKODYSTROPHY DUE TO DECR DEFICIENCY

Classic maple syrup urine disease (classic MSUD) is the most severe and probably common form of MSUD (see this term) characterized by a maple syrup odor in the cerumen at birth, poor feeding, lethargy and focal dystonia, followed by progressive encephalopathy and central respiratory failure if untreated.

CLASSIC MAPLE SYRUP URINE DISEASE Is also known as keto acid decarboxylase deficiency|classic branched-chain ketoaciduria|classic branched-chain alpha-ketoacid dehydrogenase deficiency|classic msud|bckd deficiency|classic bckd deficiency|branched-chain ketoaciduria|branched-chain alpha-keto acid dehydroge

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CLASSIC MAPLE SYRUP URINE DISEASE

Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism. Isolated methylmalonic aciduria is found in patients with mutations in the MUT gene causing partial, mut(-), or complete, mut(0), enzyme deficiency. This form is unresponsive to B12 therapy. Various forms of isolated methylmalonic aciduria also occur in a subset of patients with defects in the synthesis of the MUT coenzyme adenosylcobalamin (AdoCbl) and are classified according to complementation group: cblA (OMIM ), caused by mutation in the MMAA gene (OMIM ) on chromosome 4q31, and cblB (OMIM ), caused by mutation in the MMAB gene (OMIM ) on 12q24.Combined methylmalonic aciduria and homocystinuria may be seen in complementation groups cblC (OMIM ), cblD (OMIM ), and cblF (OMIM ).See the comprehensive review of Ledley (1990).

METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-COA MUTASE DEFICIENCY Is also known as methylmalonic acidemia due to methylmalonyl-coa mutase deficiency mma due to mcm deficiency|methylmalonic aciduria, mut type

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-COA MUTASE DEFICIENCY

Propionic acidemia (PA) is an organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of metabolic decompensation, neurological dysfunction and that may be complicated by cardiomyopathy.

PROPIONIC ACIDEMIA Is also known as glycinemia, ketotic|ketotic hyperglycinemia|propionyl-coa carboxylase deficiency|propionic aciduria|pcc deficiency|hyperglycinemia with ketoacidosis and leukopenia

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PROPIONIC ACIDEMIA

Lysinuric protein intolerance (LPI) is a very rare inherited multisystem condition caused by distrubance in amino acid metabolism.

LYSINURIC PROTEIN INTOLERANCE Is also known as lpi|hyperdibasic aminoaciduria type 2|dibasic amino aciduria ii

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LYSINURIC PROTEIN INTOLERANCE

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

Symptoms // Phenotype % 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
Hepatomegaly Common - Between 50% and 80% cases
Coma Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Intellectual disability

Uncommon Symptoms - Between 30% and 50% cases

Lethargy

Common Symptoms - More than 50% cases

Hyperammonemia

Uncommon Symptoms - Between 30% and 50% cases

Acidosis

Common Symptoms - More than 50% cases

Dystonia

Uncommon Symptoms - Between 30% and 50% cases

Anemia

Common Symptoms - More than 50% cases

Failure to thrive

Uncommon Symptoms - Between 30% and 50% cases

Thrombocytopenia Nausea and vomiting Vomiting Choreoathetosis Metabolic acidosis Aciduria Fever Dehydration Ketonuria Renal insufficiency Feeding difficulties Cardiomyopathy Organic aciduria Immunodeficiency Stroke Encephalopathy Short stature Spasticity Hypoglycemia Osteoporosis Fatigue Increased level of hippuric acid in urine Neutropenia Respiratory distress Optic atrophy Postural instability

Rare Symptoms - Less than 30% cases

Aspiration pneumonia Renal tubular acidosis Leukodystrophy Hyperlysinemia Spastic tetraplegia Tetraplegia Apnea Muscle weakness Ataxia Skeletal muscle atrophy Stage 5 chronic kidney disease Lactic acidosis Nausea Ketosis Feeding difficulties in infancy Ketoacidosis Respiratory insufficiency Pancytopenia Recurrent infections Leukopenia Ischemic stroke Methylmalonic aciduria Hyperglycinemia Cerebellar hemorrhage Diabetes mellitus Neonatal hypotonia Cerebral visual impairment Cerebral atrophy Diarrhea Hypertonia Decreased plasma carnitine Splenomegaly Irritability Microcephaly Nystagmus Ventriculomegaly Growth delay Abnormal globus pallidus morphology Tubulointerstitial abnormality Truncal obesity Methylmalonic acidemia Glomerulopathy Paraparesis Homocystinuria Impulsivity Increased serum ferritin Delayed CNS myelination Tubulointerstitial nephritis Macrocytic anemia Hemophagocytosis Micronodular cirrhosis Spastic tetraparesis Hyperlysinuria Tetraparesis Elevated plasma branched chain amino acids Argininuria Ornithinuria Protein avoidance Pulmonary hemorrhage Episodic ataxia Cerebral edema Oroticaciduria Opisthotonus Alveolar proteinosis Abnormality of the kidney Neurological speech impairment Metabolic ketoacidosis Psychotic episodes Nephropathy Chronic metabolic acidosis Muscular hypotonia of the trunk Arrhythmia Aminoaciduria Hyperextensible skin Delayed skeletal maturation Osteopenia Jaundice Cutis laxa Sparse hair Malabsorption Cognitive impairment Cirrhosis Recurrent fractures Abnormal bleeding Fine hair Increased intracranial pressure Increased serum lactate Brain atrophy Intellectual disability, severe Systemic lupus erythematosus Constipation Limb hypertonia Developmental regression Decreased antibody level in blood Overgrowth Eczema Tachypnea Abnormality of immune system physiology Poor appetite Malnutrition Propionicacidemia Episodic vomiting Acute encephalopathy Hyperglycinuria Abnormality of the coagulation cascade Propionyl-CoA carboxylase deficiency Intolerance to protein Glomerulonephritis Growth abnormality Difficulty running Cerebral palsy Central apnea Blindness Pneumonia Clonus Aspiration Abnormality of mitochondrial metabolism Global brain atrophy Central hypotonia Respiratory acidosis Abnormality of movement Decreased plasma free carnitine Hearing impairment Sensorineural hearing impairment Pain Myopathy Congestive heart failure Obesity Areflexia Anorexia Abdominal pain Difficulty walking Apathy Sepsis Chorea Hemiplegia/hemiparesis Renal tubular dysfunction Myoclonus EEG abnormality Abnormality of the cerebral white matter Hyperuricemia Dysarthria Excessive daytime somnolence Recurrent hypoglycemia Acute pancreatitis Dicarboxylic aciduria Glutaric aciduria Nonketotic hypoglycemia 3-Methylglutaric aciduria Increased level of 3-hydroxy-3-methylglutaric acid in urine Elevated serum creatine phosphokinase Elevated hepatic transaminase Hallucinations Headache Central sleep apnea Abnormal involuntary eye movements Abnormal basal ganglia MRI signal intensity Decreased activity of NADPH oxidase Stress/infection-induced lactic acidosis Abnormality of carnitine metabolism Hypertension Depressivity Nonprogressive cerebellar ataxia Hyperactivity Respiratory failure Weight loss Anxiety Ophthalmoplegia Hepatic failure Otitis media Hepatitis Progressive spastic quadriplegia Progressive encephalopathy Proximal muscle weakness Fasciculations Myalgia Distal muscle weakness Ichthyosis Hepatic steatosis Waddling gait Hypertriglyceridemia Progressive muscle weakness Insulin resistance Exercise intolerance Cerebellar atrophy Hyperlipidemia Easy fatigability Psoriasiform dermatitis Gowers sign Neck muscle weakness Progressive proximal muscle weakness Increased muscle lipid content Hypoplasia of the corpus callosum Asterixis


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Hepatomegaly and Renal cyst, related diseases and genetic alterations Skeletal muscle atrophy and Peripheral demyelination, related diseases and genetic alterations High palate and Apraxia, related diseases and genetic alterations Ptosis and Overgrowth, related diseases and genetic alterations Sensorineural hearing impairment and Colon cancer, related diseases and genetic alterations