Muscular hypotonia, and Respiratory insufficiency

Diseases related with Muscular hypotonia and Respiratory insufficiency

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


Top matches:

Medium match MYASTHENIC SYNDROME, CONGENITAL, 2C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS2C


Congenital myasthenic syndrome associated with AChR deficiency is a disorder of the postsynaptic neuromuscular junction (NMJ) characterized clinically by early-onset muscle weakness with variable severity. Electrophysiologic studies show low amplitude of the miniature endplate potential (MEPP) and current (MEPC) resulting from deficiency of AChR at the endplate. Treatment with cholinesterase inhibitors or amifampridine may be helpful (summary by Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

Related symptoms:

  • Muscle weakness
  • Feeding difficulties
  • Respiratory insufficiency
  • Myopathy
  • Neonatal hypotonia


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 2C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS2C

Medium match MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS3C


Congenital myasthenic syndrome associated with AChR deficiency is a disorder of the postsynaptic neuromuscular junction (NMJ) clinically characterized by early-onset muscle weakness with variable severity. Electrophysiologic studies show low amplitude of the miniature endplate potential (MEPP) and current (MEPC) resulting from deficiency of AChR at the endplate. Treatment with acetylcholinesterase inhibitors or amifampridine may be helpful (summary by Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • Ptosis
  • High palate
  • Feeding difficulties


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS3C

Low match MITOCHONDRIAL DNA DEPLETION SYNDROME 12A (CARDIOMYOPATHIC TYPE), AUTOSOMAL DOMINANT; MTDPS12A


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

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Other less relevant matches:

Low match PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY


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

Low match EPILEPSY, PYRIDOXINE-DEPENDENT; EPD


Pyridoxine-dependent epilepsy, characterized by a combination of various seizure types, usually occurs in the first hours of life and is unresponsive to standard anticonvulsants, responding only to immediate administration of pyridoxine hydrochloride. The dependence is permanent, and the interruption of daily pyridoxine supplementation leads to the recurrence of seizures. Some patients show developmental delay. The prevalence is estimated at 1 in 400,000 to 700,000 (Bennett et al., 2005).

EPILEPSY, PYRIDOXINE-DEPENDENT; EPD Is also known as pyridoxine dependency with seizures|pde|pyridoxine-dependent epilepsy|aasa dehydrogenase deficiency

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPSY, PYRIDOXINE-DEPENDENT; EPD

Low match MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL; CMS4B


Fast-channel congenital myasthenic syndrome (FCCMS) is a disorder of the postsynaptic neuromuscular junction (NMJ) characterized by early-onset progressive muscle weakness. The disorder results from kinetic abnormalities of the AChR channel, specifically from abnormally brief opening and activity of the channel, with a rapid decay in endplate current and a failure to reach the threshold for depolarization. Treatment with pyridostigmine or amifampridine may be helpful; quinine, quinidine, and fluoxetine should be avoided (summary by Sine et al., 2003 and Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

Related symptoms:

  • Muscle weakness
  • Ptosis
  • Feeding difficulties
  • Respiratory insufficiency
  • Neonatal hypotonia


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL; CMS4B

Low match MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL; CMS3A


Slow-channel congenital myasthenic syndrome (SCCMS) is a disorder of the postsynaptic neuromuscular junction (NMJ) characterized by early-onset progressive muscle weakness. The disorder results from kinetic abnormalities of the AChR channel, specifically from prolonged opening and activity of the channel, which causes prolonged synaptic currents resulting in a depolarization block. This is associated with calcium overload, which may contribute to subsequent degeneration of the endplate and postsynaptic membrane. Treatment with quinine, quinidine, or fluoxetine may be helpful; acetylcholinesterase inhibitors and amifampridine should be avoided (summary by Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

Related symptoms:

  • Muscle weakness
  • Ptosis
  • Motor delay
  • Dysphagia
  • Respiratory insufficiency


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL; CMS3A

Low match PARAMYOTONIA CONGENITA OF VON EULENBURG


Paramyotonia congenita of Von Eulenburg is characterised by exercise- or cold-induced myotonia and muscle weakness. Prevalence is unknown. The syndrome is nonprogressive and is transmitted as an autosomal dominant trait. It is caused by mutations in the gene encoding the alpha subunit of the type IV voltage-gated sodium channel (SCN4A; 17q23.3).

PARAMYOTONIA CONGENITA OF VON EULENBURG Is also known as paramyotonia congenita

Related symptoms:

  • Feeding difficulties
  • Dysphagia
  • Neonatal hypotonia
  • Myalgia
  • Muscle stiffness


SOURCES: ORPHANET MENDELIAN

More info about PARAMYOTONIA CONGENITA OF VON EULENBURG

Low match MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL; CMS4A


Slow-channel congenital myasthenic syndrome (SCCMS) is a disorder of the postsynaptic neuromuscular junction (NMJ) characterized by early-onset progressive muscle weakness. The disorder results from kinetic abnormalities of the acetylcholine receptor channel, specifically from prolonged opening and activity of the channel, which causes prolonged synaptic currents resulting in a depolarization block. This is associated with calcium overload, which may contribute to subsequent degeneration of the endplate and postsynaptic membrane. Treatment with quinine, quinidine, or fluoxetine may be helpful; acetylcholinesterase inhibitors and amifampridine should be avoided (summary by Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL; CMS4A Is also known as cms1a1, formerly|cms ia1, formerly|congenital myasthenic syndrome type ia1, formerly

Related symptoms:

  • Generalized hypotonia
  • Strabismus
  • Muscle weakness
  • Ptosis
  • Dysphagia


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL; CMS4A

Low match CENTRAL CORE DISEASE


Central core disease (CCD) is an inherited neuromuscular disorder characterised by central cores on muscle biopsy and clinical features of a congenital myopathy.

Related symptoms:

  • Muscular hypotonia
  • Motor delay
  • Talipes equinovarus
  • Myopathy
  • Elevated serum creatine phosphokinase


SOURCES: ORPHANET MENDELIAN

More info about CENTRAL CORE DISEASE

Top 5 symptoms//phenotypes associated to Muscular hypotonia and Respiratory insufficiency

Symptoms // Phenotype % cases
Muscle weakness Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Feeding difficulties Uncommon - Between 30% and 50% cases
Myopathy Uncommon - Between 30% and 50% cases
Neonatal hypotonia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Ptosis Respiratory insufficiency due to muscle weakness Easy fatigability Dysphagia Progressive muscle weakness Motor delay Acidosis

Rare Symptoms - Less than 30% cases


Lactic acidosis Respiratory distress Inability to walk Decreased miniature endplate potentials Muscle stiffness Seizures Limb muscle weakness Facial palsy Bilateral ptosis Myotonia of the jaw Feeding difficulties in infancy Neonatal inspiratory stridor Strabismus Myotonia of the upper limb Facial muscle hypertrophy Abnormality of potassium homeostasis Paradoxical myotonia Cold-sensitive myotonia Myotonia of the face Cold paresis Poor suck Sudden episodic apnea Ophthalmoparesis Pes planus Type 1 muscle fiber predominance Bulbar signs Nemaline bodies Fetal akinesia sequence Malignant hyperthermia Congenital hip dislocation Joint laxity Elevated serum creatine phosphokinase Bulbar palsy Talipes equinovarus Generalized hypotonia due to defect at the neuromuscular junction Apneic episodes precipitated by illness, fatigue, stress Periodic hypokalemic paresis EMG: decremental response of compound muscle action potential to repetitive nerve stimulation Type 2 muscle fiber atrophy Fatigable weakness Weak cry Handgrip myotonia Ophthalmoplegia Percussion myotonia Cerebral white matter atrophy Intellectual disability Respiratory arrest Severe lactic acidosis Stridor Metabolic acidosis Agenesis of corpus callosum Organic aciduria Delayed speech and language development Abnormality of mitochondrial metabolism Hypertrophic cardiomyopathy Hyporeflexia Cardiomyopathy Fatigue High palate Global developmental delay Vomiting Myotonia Generalized tonic seizures EMG: myopathic abnormalities Myalgia Poor head control Generalized muscle weakness Neck muscle weakness Prenatal movement abnormality Fetal distress Abnormality of metabolism/homeostasis Neonatal respiratory distress Status epilepticus Generalized-onset seizure Generalized myoclonic seizures Abdominal distention Generalized tonic-clonic seizures Myoclonus Pelvic girdle muscle weakness



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