Generalized hypotonia, and Stroke

Diseases related with Generalized hypotonia and Stroke

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

Top matches:

Medium match B4GALT1-CDG

B4GALT1-CDG is a congenital disorder of glycosylation characterised by macrocephaly due to Dandy-Walker malformation, hydrocephaly, hypotonia, myopathy and coagulation anomalies. To date, only one case has been reported. The syndrome is associated with mutations in the GALT1 gene (localised to region q13 of chromosome 9) leading to a deficiency in the Golgi apparatus enzyme beta-1,4-galactosyl transferase.

B4GALT1-CDG Is also known as carbohydrate deficient glycoprotein syndrome type iid|beta-1,4-galactosyltransferase deficiency|congenital disorder of glycosylation type 2d|cdg2d|cdg iid|congenital disorder of glycosylation type iid|cdgiid|cdg-iid|cdg syndrome type iid

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Muscular hypotonia
  • Macrocephaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about B4GALT1-CDG

Adenosine monophosphate (AMP) deaminase deficiency is a metabolic disorder for which two forms have been described. Lack of activity of the erythrocyte isoform of AMP deaminase has been described in subjects with low plasma uric acid levels without obvious clinical relevance and will not be described further. Myoadenylate deaminase deficiency is an inherited disorder of muscular energy metabolism with a lack of AMP deaminase activity in skeletal muscle. It is characterised by exercise-induced muscle pain, cramps and/or early fatigue.

ADENOSINE MONOPHOSPHATE DEAMINASE DEFICIENCY Is also known as ampd1 deficiency|amp deaminase deficiency|myoadenylate deaminase deficiency, myopathy due to|adenosine monophosphate deaminase-1 deficiency, myopathy due to|myoadenylate deaminase deficiency

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • Pain
  • Skeletal muscle atrophy
  • Macrocephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about ADENOSINE MONOPHOSPHATE DEAMINASE DEFICIENCY

This syndrome is characterised by childhood-onset progressive ataxia and cerebellar atrophy.

AUTOSOMAL RECESSIVE ATAXIA DUE TO UBIQUINONE DEFICIENCY Is also known as arca2|autosomal recessive cerebellar ataxia type 2|spinocerebellar ataxia, autosomal recessive 9|scar9|autosomal recessive ataxia due to coenzyme q10 deficiency|autosomal recessive spinocerebellar ataxia type 9

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE ATAXIA DUE TO UBIQUINONE DEFICIENCY

Other less relevant matches:

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

Homocystinuria due to methylene tetrahydrofolate reductase (MTHFR) deficiency is a metabolic disorder characterised by neurological manifestations.

HOMOCYSTINURIA DUE TO METHYLENE TETRAHYDROFOLATE REDUCTASE DEFICIENCY Is also known as methylenetetrahydrofolate reductase deficiency|mthfr deficiency|methylene tetrahydrofolate reductase deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HOMOCYSTINURIA DUE TO METHYLENE TETRAHYDROFOLATE REDUCTASE DEFICIENCY

CITRULLINEMIA, CLASSIC Is also known as ass deficiency|argininosuccinate synthetase deficiency|citrullinemia, type i|ctln1|citrullinuria

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CITRULLINEMIA, CLASSIC

Acyl-CoA dehydrogenase 9 (ACAD9) deficiency is a rare disorder leading to a deficiency of complex I of the respiratory chain and is characterized by neurological dysfunction, hepatic failure and cardiomyopathy.

ACYL-COA DEHYDROGENASE 9 DEFICIENCY Is also known as acyl-coa dehydrogenase 9 deficiency|acad9 deficiency

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness
  • Muscular hypotonia


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about ACYL-COA DEHYDROGENASE 9 DEFICIENCY

Medium match RFT1-CDG

RFT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by poorly coordinated suck resulting in difficulty feeding and failure to thrive; myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder; roving eyes; developmental delay; poor to absent visual contact; and sensorineural hearing loss. Additional features that may be observed include coagulation factor abnormalities, inverted nipples and microcephaly. The disease is caused by mutations in the gene RFT1 (3p21.1).

RFT1-CDG Is also known as congenital disorder of glycosylation type in|cdg1n|cdg-in|cdg syndrome type in|carbohydrate deficient glycoprotein syndrome type in|man5glcnac2-pp-dol flippase deficiency|cdgin|cdg in|congenital disorder of glycosylation type 1n

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about RFT1-CDG

Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome (see this term), is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development.

CONGENITAL LACTIC ACIDOSIS, SAGUENAY-LAC-SAINT-JEAN TYPE Is also known as cytochrome oxidase deficiency, saguenay-lac-saint-jean type|cytochrome c oxidase deficiency, french canadian type|cytochrome c oxidase deficiency, french-canadian type|cox deficiency, french canadian type|leigh syndrome, french-canadian type|slsj-cox defi

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CONGENITAL LACTIC ACIDOSIS, SAGUENAY-LAC-SAINT-JEAN TYPE

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

Top 5 symptoms//phenotypes associated to Generalized hypotonia and Stroke

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

Other less frequent symptoms

Patients with Generalized hypotonia and Stroke. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Ataxia

Uncommon Symptoms - Between 30% and 50% cases

Coma Acidosis Lethargy Metabolic acidosis Hyperammonemia Dystonia Increased serum lactate Spasticity Hepatic steatosis Cognitive impairment Feeding difficulties Respiratory insufficiency Edema Vomiting Hypoglycemia Lactic acidosis Myopathy Cardiomyopathy Aciduria Abnormality of the coagulation cascade Respiratory distress Hyperreflexia Tremor Stroke-like episode Hepatomegaly Muscle weakness Encephalopathy

Rare Symptoms - Less than 30% cases

Severe global developmental delay Cerebellar hemorrhage Homocystinuria Delusions Diarrhea Thrombocytopenia Microvesicular hepatic steatosis Apnea Irritability Poor suck Paraparesis Renal insufficiency Microcephaly Hallucinations Gliosis Cerebral palsy Decreased liver function Cerebral atrophy Ketonuria Intellectual disability, mild Intellectual disability, severe Organic aciduria Cerebral edema Behavioral abnormality Hypertrophic cardiomyopathy Myoclonus Exercise intolerance Limb muscle weakness Developmental regression Myalgia Fatigue Hearing impairment Proximal muscle weakness Infantile muscular hypotonia Strabismus Abnormality of coagulation Muscular hypotonia of the trunk Elevated creatine kinase after exercise Elevated serum creatine phosphokinase Areflexia Increased CSF lactate Macrocephaly Short neck Visual impairment Sensorineural hearing impairment Micrognathia Hyperglycinemia Fever Cerebral cortical atrophy Methylmalonic aciduria Arthrogryposis multiplex congenita Abnormality of the foot Delayed CNS myelination Tubulointerstitial nephritis Abnormal bleeding Adducted thumb Mild short stature Inverted nipples Reduced visual acuity Increased lactate dehydrogenase activity Short stature Generalized edema Generalized muscle weakness Sudden cardiac death Ventricular hypertrophy Chronic metabolic acidosis Left ventricular hypertrophy Abnormal globus pallidus morphology EMG: myopathic abnormalities Fatigable weakness Acute hepatic failure Severe lactic acidosis Decreased plasma carnitine Methylmalonic acidemia Prolonged prothrombin time Proximal tubulopathy Tubulointerstitial abnormality Decreased activity of mitochondrial respiratory chain Dicarboxylic aciduria Macrovesicular hepatic steatosis Decreased activity of mitochondrial complex I Nonketotic hypoglycemia Pes valgus Elevated plasma acylcarnitine levels Abnormal thrombosis Ischemic stroke Hyperintensity of cerebral white matter on MRI Nephropathy Truncal ataxia Tetraparesis Hepatic failure Leukoencephalopathy Pancytopenia Tachypnea Hyperglycemia Dehydration Postural instability Anteriorly placed anus Stage 5 chronic kidney disease Broad-based gait Breathing dysregulation CNS demyelination Nausea and vomiting Neurological speech impairment Abnormality of the kidney Diabetes mellitus Immunodeficiency Optic atrophy Congenital lactic acidosis Increased hepatocellular lipid droplets Low anterior hairline Intention tremor Abnormality of the posterior cranial fossa Dysphagia Abnormal isoelectric focusing of serum transferrin Macrocytic anemia Anemia Leukopenia Spastic tetraparesis Bilateral basal ganglia lesions Hypertelorism Abnormal facial shape Delayed speech and language development Wide nasal bridge Anteverted nares Peripheral demyelination Malar flattening Midface retrusion Absent speech Pancreatitis Hypospadias Cerebellar hypoplasia Prominent forehead Hirsutism Highly arched eyebrow Choreoathetosis Shock Motor delay Dilated cardiomyopathy Nausea Increased intramyocellular lipid droplets Epilepsia partialis continua Talipes cavus equinovarus Focal T2 hypointense basal ganglia lesion Growth delay Respiratory failure Gastroesophageal reflux Feeding difficulties in infancy Abnormality of movement Tetraplegia Central hypotonia Brain atrophy Focal-onset seizure Intellectual disability, profound Hemiparesis Involuntary movements Leukodystrophy Failure to thrive in infancy Opisthotonus Poor appetite Drowsiness Generalized tonic seizures Axonal degeneration Abnormality of the cerebral vasculature Exercise-induced myalgia Hydrocephalus Dandy-Walker malformation Pain Skeletal muscle atrophy Neonatal hypotonia Muscle cramps Easy fatigability Rhabdomyolysis Chronic fatigue Increased muscle fatiguability Neurodevelopmental delay Exercise-induced muscle fatigue Cerebellar atrophy Pes cavus Gait ataxia Intellectual disability, moderate Abnormal pyramidal sign Progressive cerebellar ataxia Gynecomastia EMG abnormality Brisk reflexes Ketoacidosis Neutrophilia Elevated hepatic transaminase Hepatic encephalopathy Psychosis Clonus Increased intracranial pressure Slurred speech Loss of consciousness Ankle clonus Insomnia Echolalia Enuresis Mania Confusion Delayed menarche Oroticaciduria Respiratory alkalosis Hypoargininemia Protein avoidance Hyperglutaminemia Episodic ammonia intoxication Congestive heart failure Depressivity Patent ductus arteriosus Cirrhosis Visual loss Acute hepatic steatosis Attention deficit hyperactivity disorder Episodic metabolic acidosis Acute hyperammonemia Abnormality of leucine metabolism Scoliosis Peripheral neuropathy Gait disturbance Hypoplasia of the corpus callosum Hyperactivity Abnormality of the nervous system Paresthesia Headache Waddling gait Epileptic encephalopathy Hypsarrhythmia Myocardial infarction Progressive neurologic deterioration Incoordination Coronary artery atherosclerosis Thromboembolism Hyperhomocystinemia Hypertonia Metabolic ketoacidosis


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