Muscular hypotonia, and Fever

Diseases related with Muscular hypotonia and Fever

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

Top matches:

ACETYL-COA ACETYLTRANSFERASE-2 DEFICIENCY; ACAT2D Is also known as acat2 deficiency

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Fever
  • Chorea
  • Increased serum lactate


SOURCES: OMIM MENDELIAN

More info about ACETYL-COA ACETYLTRANSFERASE-2 DEFICIENCY; ACAT2D

DEDSM is a neurodevelopmental disorder characterized by global developmental delay, variable intellectual disability, and early-onset seizures with a myoclonic component. Most patients have delayed motor development and show abnormal movements, including ataxia, dystonia, and tremor (summary by Hamdan et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES; DEDSM

EIEE52 is an autosomal recessive seizure disorder characterized by infantile onset of refractory seizures with resultant delayed global neurologic development that causes intellectual disability and other persistent neurologic abnormalities (summary by Patino et al., 2009).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 52; EIEE52

Other less relevant matches:

Acute inflammatory demyelinating polyradiculoneuropathy (AIDP) is an inflammatory neuropathy belonging to the clinical spectrum of Guillain-Barré syndrome (GBS; see this term).

ACUTE INFLAMMATORY DEMYELINATING POLYRADICULONEUROPATHY Is also known as guillain-barrÉ syndrome, acute inflammatory demyelinating polyradiculoneuropathic form|aidp|acute inflammatory polyneuropathy|acute idiopathic demyelinating polyneuropathy|gbs, acute inflammatory demyelinating polyradiculoneuropathic form

Related symptoms:

  • Generalized hypotonia
  • Hyporeflexia
  • Gait ataxia
  • Unsteady gait
  • Drooling


SOURCES: ORPHANET MENDELIAN

More info about ACUTE INFLAMMATORY DEMYELINATING POLYRADICULONEUROPATHY

Hemophagocytic lymphohistiocytosis is a hyperinflammatory disorder clinically diagnosed based on the fulfillment of 5 of 8 criteria, including fever, splenomegaly, bicytopenia, hypertriglyceridemia and/or hypofibrinogenemia, hemophagocytosis, low or absent natural killer (NK) cell activity, hyperferritinemia, and high soluble IL2 receptor levels (IL2R ). The disorder typically presents in infancy or early childhood. Persistent remission is rarely achieved with chemo- or immunotherapy; hematopoietic stem cell transplantation is the only cure (summary by Muller et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of familial hemophagocytic lymphohistiocytosis (FHL), see {267700}.

HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4 Is also known as hlh4|hplh4

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4; EIEE4

In a report on the 37th ENMC Workshop, Rudel and Lehmann-Horn (1997) stated that the sodium channelopathies can be divided into 3 different forms: paramyotonia, potassium-aggravated myotonia, and periodic paralysis. Potassium-aggravated myotonia includes mild myotonia fluctuans, severe myotonia permanens, and acetazolamide-responsive myotonia.

MYOTONIA, POTASSIUM-AGGRAVATED Is also known as myotonia congenita, acetazolamide-responsive|myotonia fluctuans|sodium channel muscle disease|myotonia congenita, atypical|myotonia permanens

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • Feeding difficulties
  • Fever
  • Fatigue


SOURCES: OMIM MENDELIAN

More info about MYOTONIA, POTASSIUM-AGGRAVATED

Fructose-1,6-biphosphatase (FBP) deficiency is a disorder of fructose metabolism (see this term) characterized by recurrent episodes of fasting hypoglycemia with lactic acidosis, that may be life-threatening in neonates and infants.

FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY Is also known as fructose-1,6-diphosphatase deficiency|fbpase deficiency

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Muscular hypotonia
  • Hepatomegaly
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY

Rapid-onset dystonia-parkinsonism (RDP) is a very rare movement disorder, characterized by the abrupt onset of parkinsonism and dystonia, often triggered by physical or psychological stress.

RAPID-ONSET DYSTONIA-PARKINSONISM Is also known as dyt12|dystonia-parkinsonism, rapid-onset|rdp|dystonia 12

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Motor delay


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about RAPID-ONSET DYSTONIA-PARKINSONISM

This disease is characterised by progressive cerebellar ataxia with pyramidal and spinal cord dysfunction, associated with distinctive MRI anomalies and increased lactate in the abnormal white matter.

LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT-HIGH LACTATE SYNDROME Is also known as mitochondrial aspartyl-trna synthetase deficiency|leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome|lbsl

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Nystagmus


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT-HIGH LACTATE SYNDROME

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

Symptoms // Phenotype % cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Tremor Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Ataxia Gait ataxia Unsteady gait Epileptic encephalopathy Motor delay Generalized myoclonic seizures Generalized tonic-clonic seizures

Rare Symptoms - Less than 30% cases

Hyperreflexia Dysarthria Hypomimic face Muscle weakness Bradykinesia Dystonia Hyporeflexia Progressive neurologic deterioration Absent speech Drooling Delayed speech and language development Cyanosis Apnea Ketosis Status epilepticus Hepatomegaly Progressive cerebellar ataxia Spasticity Impaired gluconeogenesis Dysphagia Increased urinary glycerol Severe lactic acidosis Cerebellar atrophy Hypertonia Intellectual disability, mild Depressivity Neonatal hyperbilirubinemia Tachycardia Neonatal hypoglycemia Irritability Laryngospasm Apneic episodes in infancy Vomiting Dyspnea Acidosis Hypoglycemia Lethargy Hyperventilation Lactic acidosis Abnormality of movement Metabolic acidosis Coma Hyperbilirubinemia Tachypnea Hyperuricemia Drowsiness Anxiety Emotional lability Inability to walk Mental deterioration Nystagmus Cognitive impairment Flexion contracture Peripheral neuropathy Skeletal muscle atrophy Babinski sign Abnormality of the cerebral white matter Oculogyric crisis Poor speech Peripheral axonal neuropathy Clumsiness Truncal ataxia Leukoencephalopathy Slurred speech Episodic ataxia Retrocollis Personality disorder Postural instability Mutism Parkinsonism Gliosis Neuronal loss in central nervous system Apraxia Broad-based gait Torticollis Dysphonia Craniofacial dystonia Periodic paralysis Resting tremor Limb dystonia Focal dystonia Torsion dystonia Weak voice Abnormal posturing Respiratory arrest Impaired horizontal smooth pursuit Skeletal muscle hypertrophy Onion bulb formation Aspiration Focal impaired awareness seizure Aspiration pneumonia Developmental stagnation Atypical absence seizures Hemiclonic seizures Episodic fever Febrile seizures EMG: neuropathic changes Distal lower limb muscle weakness Dysesthesia Acute demyelinating polyneuropathy Sleepy facial expression Impaired oropharyngeal swallow response Limb ataxia Abnormal pyramidal sign Splenomegaly Myoclonus Chorea Increased serum lactate Poor head control Colitis Increased serum pyruvate Short stature EEG abnormality Abnormality of the nervous system Rigidity Arnold-Chiari type I malformation Myokymia Cortical myoclonus Eyelid myoclonus Myoclonic absences Pneumonia Anemia Thrombocytopenia Stridor Feeding difficulties CNS hypomyelination Epileptic spasms Generalized tonic seizures Cerebral hypomyelination Infantile encephalopathy EEG with burst suppression Fatigue Hypsarrhythmia Elevated serum creatine phosphokinase Myalgia Paralysis Bradycardia Muscle stiffness Myotonia Intellectual disability, profound Spastic tetraplegia Hepatosplenomegaly Intellectual disability, severe Neutropenia Hypertriglyceridemia Increased serum ferritin Hemophagocytosis Hypofibrinogenemia Hypoplasia of the corpus callosum Cerebral atrophy Tetraplegia Encephalopathy Cerebral cortical atrophy Developmental regression Severe global developmental delay Spastic paraplegia Dyskinesia Neurodegeneration Sensory ataxia


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