Muscular hypotonia, and Abnormality of the cerebral white matter

Diseases related with Muscular hypotonia and Abnormality of the cerebral white matter

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

Top matches:

Combined oxidative phosphorylation defect type 21 is a rare mitochondrial disease characterized by axial hypotonia with limb hypertonia, developmental delay, hyperlactatemia, central nervous system anomalies visible on magnetic resonance imaging (e.g. corpus callosum hypoplasia, lesions of the globus pallidus) and multiple deficiency of the mitochondrial respiratory chain complexes in muscle tissue, but not in fibroblasts or liver.

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 21 Is also known as coxpd21

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hypoplasia of the corpus callosum
  • Hypertonia
  • Muscular hypotonia of the trunk


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 21

MTDPS12A is characterized by severe hypotonia due to mitochondrial dysfunction apparent at birth. Affected infants have respiratory insufficiency requiring mechanical ventilation and have poor or no motor development. Many die in infancy, and those that survive have profound hypotonia with significant muscle weakness and inability to walk independently. Some patients develop hypertrophic cardiomyopathy. Muscle samples show mtDNA depletion and severe combined mitochondrial respiratory chain deficiencies (summary by Thompson et al., 2016).For a discussion of genetic heterogeneity of mtDNA depletion syndromes, see MTDPS1 (OMIM ).

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Muscle weakness
  • Respiratory insufficiency
  • Cardiomyopathy


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL DNA DEPLETION SYNDROME 12A (CARDIOMYOPATHIC TYPE), AUTOSOMAL DOMINANT; MTDPS12A

Foetal methylmercury syndrome is characterised by a group of symptoms that may be observed in a foetus or newborn when the mother was exposed during pregnancy to excessive amounts of methylmercury.

FETAL METHYLMERCURY SYNDROME Is also known as methyl mercury antenatal infection|minamata disease

Related symptoms:

  • Short stature
  • Hearing impairment
  • Microcephaly
  • Muscular hypotonia
  • Visual impairment


SOURCES: MESH ORPHANET MENDELIAN

More info about FETAL METHYLMERCURY SYNDROME

Other less relevant matches:

Pyruvate dehydrogenase E1-beta deficiency is an extremely rare form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by severe lactic acidosis, developmental delay and hypotonia.

PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY Is also known as pdhbd|pyruvate dehydrogenase complex e1 component subunit beta deficiency

Related symptoms:

  • Generalized hypotonia
  • Agenesis of corpus callosum
  • Acidosis
  • Lactic acidosis
  • Metabolic acidosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY

Autosomal dominant remitting MLC2B is characterized by infantile-onset of macrocephaly and mildly delayed motor development associated with white matter abnormalities on brain MRI that improve with age. As children, some patients have mild residual hypotonia or clumsiness, but otherwise have no residual motor abnormalities. About 40% of patients have mental retardation (summary by van der Knaap et al., 2010 and Lopez-Hernandez et al., 2011).Homozygous or compound heterozygous mutations in the HEPACAM gene can cause a more severe and progressive disorder associated with ataxia, spasticity, and mental retardation (MLC2A ).For a discussion of genetic heterogeneity of megalencephalic leukoencephalopathy with subcortical cysts, see MLC1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH OR WITHOUT MENTAL RETARDATION; MLC2B

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Delayed speech and language development


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 45; MRD45

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Strabismus


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 31; JBTS31

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ventriculomegaly
  • Hypoplasia of the corpus callosum


SOURCES: OMIM MENDELIAN

More info about CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5; CDCBM5

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Visual impairment


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 45; EIEE45

Top 5 symptoms//phenotypes associated to Muscular hypotonia and Abnormality of the cerebral white matter

Symptoms // Phenotype % cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Hypoplasia of the corpus callosum Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Ataxia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Muscular hypotonia and Abnormality of the cerebral white matter. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability

Rare Symptoms - Less than 30% cases

Lactic acidosis Generalized myoclonic seizures Ventriculomegaly Visual impairment Absent speech Hyperactivity Inability to walk Hypsarrhythmia Developmental regression Acidosis Attention deficit hyperactivity disorder Poor speech Dysmetria Rigidity Focal-onset seizure Cerebellar hypoplasia Absence seizures Focal impaired awareness seizure Nystagmus Strabismus Cerebellar atrophy Gait disturbance Multifocal epileptiform discharges Cognitive impairment Abnormality of eye movement Truncal ataxia Oculomotor apraxia Cerebral visual impairment Molar tooth sign on MRI Epileptic encephalopathy Encephalopathy Cerebellar vermis hypoplasia Hypoplasia of the brainstem Cortical dysplasia Cortical gyral simplification Infantile spasms Tremor Leukoencephalopathy Behavioral abnormality Short stature Hypertonia Muscular hypotonia of the trunk Hepatic steatosis Increased serum lactate Limb hypertonia Muscle weakness Respiratory insufficiency Cardiomyopathy Hyporeflexia Hypertrophic cardiomyopathy Respiratory insufficiency due to muscle weakness Abnormality of mitochondrial metabolism Organic aciduria Cerebral white matter atrophy Hearing impairment Delayed speech and language development Motor delay Diffuse swelling of cerebral white matter Diffuse white matter abnormalities Megalencephaly Clumsiness Autism Macrocephaly Spasticity Microcephaly Respiratory arrest Severe lactic acidosis Stridor Metabolic acidosis Agenesis of corpus callosum Vegetative state


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