Generalized hypotonia, and Cardiomyopathy

Diseases related with Generalized hypotonia and Cardiomyopathy

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

Top matches:

Combined oxidative phosphorylation deficiency-23 is an autosomal recessive disorder characterized by early childhood onset of hypertrophic cardiomyopathy and/or neurologic symptoms, including hypotonia and delayed psychomotor development. Laboratory investigations are consistent with a defect in mitochondrial function resulting in lactic acidosis, impaired activities of respiratory complexes I and IV, and defective translation of mitochondrial proteins. Brain imaging shows abnormal lesions in the basal ganglia, thalamus, and brainstem. The severity of the disorder is variable, ranging from death in early infancy to survival into the second decade (summary by Kopajtich et al., 2014).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 23 Is also known as coxpd23

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 23

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

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Muscular hypotonia
  • Cardiomyopathy


SOURCES: OMIM MENDELIAN

More info about D-2-HYDROXYGLUTARIC ACIDURIA 2; D2HGA2

Other less relevant matches:

X-linked myopathy with excessive autophagy is a childhood-onset X-linked myopathy characterised by slow progression of muscle weakness and unique histopathological findings.

X-LINKED MYOPATHY WITH EXCESSIVE AUTOPHAGY Is also known as xmea|vacuolar myopathy

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Muscle weakness
  • Cardiomyopathy
  • Myopathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED MYOPATHY WITH EXCESSIVE AUTOPHAGY

Familial dyskinesia and facial myokymia is a rare paroxysmal movement disorder, with childhood or adolescent onset, characterized by paroxysmal choreiform, dystonic, and myoclonic movements involving the limbs (mostly distal upper limbs), neck and/or face, which can progressively increase in both frequency and severity until they become nearly constant. Patients may also present with delayed motor milestones, perioral and periorbital dyskinesias, dysarthria, hypotonia, and weakness.

FAMILIAL DYSKINESIA AND FACIAL MYOKYMIA Is also known as fdfm

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Motor delay
  • Hyperreflexia
  • Dysarthria


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about FAMILIAL DYSKINESIA AND FACIAL MYOKYMIA

Cardiomyopathy-hypotonia-lactic acidosis syndrome is characterised by hypertrophic cardiomyopathy, muscular hypotonia and the presence of lactic acidosis at birth. It has been described in two sisters (both of whom died within the first year of life) from a nonconsanguineous Turkish family. The syndrome is caused by a homozygous point mutation in the exon 3A of the SLC25A3 gene encoding a mitochondrial membrane transporter.

CARDIOMYOPATHY-HYPOTONIA-LACTIC ACIDOSIS SYNDROME Is also known as mpcd

Related symptoms:

  • Generalized hypotonia
  • Failure to thrive
  • Muscular hypotonia
  • Respiratory insufficiency
  • Respiratory distress


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about CARDIOMYOPATHY-HYPOTONIA-LACTIC ACIDOSIS SYNDROME

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Failure to thrive
  • Feeding difficulties
  • Cardiomyopathy


SOURCES: OMIM MENDELIAN

More info about SUDDEN CARDIAC FAILURE, INFANTILE; SCFI

3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY Is also known as hadh deficiency|schad deficiency, formerly

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Cardiomyopathy
  • Encephalopathy
  • Hypoglycemia


SOURCES: MESH OMIM MENDELIAN

More info about 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Sensorineural hearing impairment
  • Feeding difficulties
  • Skeletal muscle atrophy


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE); MTDPS14

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

Symptoms // Phenotype % cases
Hypertrophic cardiomyopathy Common - Between 50% and 80% cases
Lactic acidosis Uncommon - Between 30% and 50% cases
Congestive heart failure Uncommon - Between 30% and 50% cases
Acidosis Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay Feeding difficulties Muscular hypotonia Feeding difficulties in infancy Dilated cardiomyopathy Myopathy

Rare Symptoms - Less than 30% cases

Respiratory insufficiency Aciduria Failure to thrive Intellectual disability Muscle weakness Increased serum lactate Arrhythmia Hypertonia Metabolic acidosis Muscular hypotonia of the trunk Growth delay Myocardial fibrosis Myocarditis Encephalopathy Nemaline bodies Abnormal mitochondrial shape Cardiac arrest Bradycardia Otitis media Vomiting Low-output congestive heart failure Hepatic failure Abnormality of the mitochondrion Severe muscular hypotonia Cyanosis Hypoglycemia Fulminant hepatic failure Hepatic steatosis Optic atrophy Profound global developmental delay Breech presentation Weak cry Neurodevelopmental delay Opisthotonus Retinal degeneration Abnormality of the eye Apnea Skeletal muscle atrophy Myoglobinuria Sensorineural hearing impairment Hearing impairment Decreased activity of 3-hydroxyacyl-CoA dehydrogenase Hypoglycemic encephalopathy Hepatic necrosis Recurrent myoglobinuria Dicarboxylic aciduria Hypoglycemic seizures Hypoketotic hypoglycemia Respiratory distress Chorea Facial myokymia D-2-hydroxyglutaric aciduria Elevated serum creatine phosphokinase Severe lactic acidosis Left ventricular noncompaction Hypothermia Tachypnea Short chin Lethargy Cerebral white matter atrophy Neonatal hypotonia Organic aciduria Abnormality of mitochondrial metabolism Respiratory insufficiency due to muscle weakness Inability to walk Hyporeflexia Intrauterine growth retardation Visual impairment Cognitive impairment Pneumonia Generalized muscle weakness Paroxysmal dyskinesia Dyskinesia Orofacial dyskinesia Myokymia Limb hypertonia Resting tremor Delayed gross motor development Involuntary movements Choreoathetosis Abnormality of movement Autophagic vacuoles Anxiety Difficulty walking Myoclonus Dystonia Tremor Dysarthria Hyperreflexia Motor delay Caesarian section


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