Generalized hypotonia, and Respiratory tract infection

Diseases related with Generalized hypotonia and Respiratory tract infection

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

Top 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

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

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Feeding difficulties
  • Edema
  • Blindness


SOURCES: OMIM MENDELIAN

More info about COENZYME Q10 DEFICIENCY, PRIMARY, 3; COQ10D3

Other less relevant matches:

Polymicrogyria with optic nerve hypoplasia is a rare genetic syndrome with central nervous system malformations characterized by severe developmental delay, neonatal hypotonia, seizures, optic nerve hypoplasia and distinct central nervous system malformations including extensive bilateral polymicrogyria, dysplastic or absent corpus callosum and malformed brainstem with loss of demarcation of the pontomedullary junction.

POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA Is also known as polymicrogyria with optic nerve hypoplasia

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Hyporeflexia


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA

The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by Waterham and Ebberink, 2012).For a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see {601539}.Individuals with mutations in the PEX13 gene have cells of complementation group 13 (CG13, equivalent to CGH). For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 11B; PBD11B

LICS is an autosomal recessive chromosome breakage syndrome characterized by failure to thrive in infancy, immune deficiency, and fatal progressive pediatric lung disease induced by viral infection. Some patients may have mild dysmorphic features (summary by van der Crabben et al., 2016).

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS

Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC; see these terms).

BRAIN-LUNG-THYROID SYNDROME Is also known as choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome|brain-lung-thyroid syndrome

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Muscular hypotonia
  • Motor delay


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about BRAIN-LUNG-THYROID SYNDROME

Early infantile epileptic encephalopathy-18 is a severe autosomal recessive neurologic disorder characterized by lack of psychomotor development apparent from birth, dysmorphic facial features, early onset of refractory seizures, and thick corpus callosum and persistent cavum septum pellucidum on brain imaging (summary by Basel-Vanagaite et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Abnormal facial shape
  • Ptosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 18; EIEE18

Congenital myasthenic syndromes (CMS) are a group of inherited disorders affecting the neuromuscular junction (NMJ). Patients present clinically with onset of variable muscle weakness between infancy and adulthood. These disorders have been classified according to the location of the defect: presynaptic, synaptic, and postsynaptic. CMS6 is an autosomal recessive CMS resulting from a presynaptic defect; patients have onset of symptoms in infancy or early childhood and tend to have sudden apneic episodes. Treatment with acetylcholinesterase inhibitors may be beneficial (summary by Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC; CMS6 Is also known as myasthenic syndrome, presynaptic, congenital, associated with episodic apnea|congenital myasthenic syndrome type ia2, formerly|cms ia2, formerly|cms1a2, formerly|cmsea|fimg2, formerly|myasthenia, familial infantile, formerly|myasthenia gravis, familial in

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Failure to thrive
  • Strabismus


SOURCES: ORPHANET OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC; CMS6

Early infantile epileptic encephalopathy-14 is a severe neurologic disorder characterized by onset in the first 6 months of life of refractory focal seizures and arrest of psychomotor development. Ictal EEG shows discharges that arise randomly from various areas of both hemispheres and migrate from one brain region to another. The disorder presents as 'malignant migrating partial seizures of infancy' (MMPSI), a clinical designation (summary by Barcia et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

MALIGNANT MIGRATING PARTIAL SEIZURES OF INFANCY Is also known as mmpei|malignant migrating partial epilepsy of infancy|mmpsi|migrating partial epilepsy of infancy|mpsi|mpei|migrating partial seizures of infancy

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MALIGNANT MIGRATING PARTIAL SEIZURES OF INFANCY

Top 5 symptoms//phenotypes associated to Generalized hypotonia and Respiratory tract infection

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Pneumonia Common - Between 50% and 80% cases
Feeding difficulties Uncommon - Between 30% and 50% cases
Cyanosis Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Generalized hypotonia and Respiratory tract infection. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Status epilepticus Epileptic encephalopathy Fever Apnea Neonatal hypotonia Muscle weakness

Rare Symptoms - Less than 30% cases

Intellectual disability Focal-onset seizure Abnormal facial shape Failure to thrive Abnormal lung morphology Abnormality of the thymus Hearing impairment Dysarthria Respiratory distress Hyporeflexia Microcephaly Respiratory failure Developmental stagnation Muscular hypotonia of the trunk Ptosis Encephalopathy Ataxia Spasticity Aspiration Generalized muscle weakness Generalized myoclonic seizures Absent speech Arthrogryposis multiplex congenita Thyroid dysgenesis Ophthalmoplegia Highly arched eyebrow Paresthesia Hemolytic anemia Autoimmunity Hepatitis Psychosis Diplopia Respiratory insufficiency due to muscle weakness Easy fatigability Tapered finger Downslanted palpebral fissures Paralysis Thick corpus callosum Generalized-onset seizure Absence seizures Drooling EEG abnormality Loss of consciousness Cavum septum pellucidum High forehead Proximal muscle weakness Laterally extended eyebrow Systemic lupus erythematosus Dysphagia Dyspnea Polyhydramnios Rigidity Strabismus Glycosuria Poor suck Neuronal loss in central nervous system Hyperreflexia Hypoplasia of the corpus callosum Myoclonus Cerebral cortical atrophy Developmental regression Tetraplegia Gliosis Delayed myelination Hypsarrhythmia Muscle specific kinase antibody positivity Involuntary movements Progressive microcephaly Clonus Muscle fibrillation Poor eye contact Epileptic spasms Flushing Multifocal seizures Single fiber EMG abnormality Generalized hypotonia due to defect at the neuromuscular junction Rheumatoid arthritis Hashimoto thyroiditis Ophthalmoparesis Bulbar palsy Increased thyroid-stimulating hormone level Abnormality of the immune system Weak cry Hyperthyroidism Fatigable weakness Primary adrenal insufficiency Acrocyanosis Acetylcholine receptor antibody positivity Raynaud phenomenon Myositis Type 2 muscle fiber atrophy EMG: decremental response of compound muscle action potential to repetitive nerve stimulation Pure red cell aplasia Hyperacusis Decreased miniature endplate potentials Sudden episodic apnea Apneic episodes precipitated by illness, fatigue, stress Compensated hypothyroidism Chorea Parkinsonism with favorable response to dopaminergic medication Sensorineural hearing impairment Cardiomyopathy Polymicrogyria Intellectual disability, profound Optic nerve hypoplasia Hypoplasia of the brainstem Colpocephaly Abnormality of brainstem morphology Cataract Episodic vomiting Visual impairment Visual loss Hepatosplenomegaly Retinal dystrophy Progressive muscle weakness Decreased liver function Inverted nipples Agenesis of corpus callosum Cerebral visual impairment Hearing abnormality Focal impaired awareness seizure Abnormality of the nervous system Abnormal pyramidal sign Generalized tonic-clonic seizures Febrile seizures Hypertrophic cardiomyopathy Elevated serum creatine phosphokinase Limb ataxia Aspiration pneumonia Nephrotic syndrome Atypical absence seizures Hemiclonic seizures Myopathy Edema Blindness Vomiting Proteinuria Increased serum lactate Central hypotonia Hypertelorism Congenital hypothyroidism Asthma Recurrent respiratory infections Gait ataxia Hypothyroidism Difficulty walking Abnormal cardiac septum morphology Abnormality of movement Sleep disturbance Autophagic vacuoles Atrial septal defect Choreoathetosis Recurrent pneumonia Infantile muscular hypotonia Hyperkinesis Neonatal respiratory distress Athetosis Interstitial pulmonary abnormality Abnormality of the thyroid gland Dystonia Respiratory insufficiency Depressed nasal bridge Chromosome breakage Immunodeficiency Recurrent infections Midface retrusion Eczema Wide anterior fontanel Failure to thrive in infancy Emphysema Mild global developmental delay Ventricular septal defect Prominent superficial veins Bronchiolitis Dermal translucency Increased sensitivity to ionizing radiation Bronchiolitis obliterans Muscular hypotonia Motor delay Skeletal muscle atrophy Focal motor seizures


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