Muscular hypotonia, and Pneumonia

Diseases related with Muscular hypotonia and Pneumonia

In the following list you will find some of the most common rare diseases related to Muscular hypotonia and Pneumonia 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:

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-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

Infantile dystonia-parkinsonism (IPD) is an extremely rare inherited neurological syndrome that presents in early infancy with hypokinetic parkinsonism and dystonia and that can be fatal.

INFANTILE DYSTONIA-PARKINSONISM Is also known as dopamine transporter deficiency syndrome|ipd|pkdys|dtds

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Cognitive impairment
  • Flexion contracture
  • Feeding difficulties


SOURCES: OMIM ORPHANET MENDELIAN

More info about INFANTILE DYSTONIA-PARKINSONISM

Familial acute necrotizing encephalopathy or ADANE is a potentially fatal neurological disease characterised by neuropathological lesions principally involving the brainstem, thalamus and putamen.

FAMILIAL ACUTE NECROTIZING ENCEPHALOPATHY Is also known as adane|recurrent acute necrotizing encephalopathy|ane|encephalopathy, acute necrotizing, susceptibility to

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL ACUTE NECROTIZING ENCEPHALOPATHY

Combined malonic and methylmalonic acidemia is a rare inborn error of metabolism characterized by elevation of malonic acid (MA) and methylmalonic acid (MMA) in body fluids, with higher levels of MMA than MA. CMAMMA presents in childhood with metabolic acidosis, developmental delay, dystonia and failure to thrive or in adulthood with seizures, memory loss and cognitive decline.

COMBINED MALONIC AND METHYLMALONIC ACIDEMIA Is also known as combined malonic and methylmalonic aciduria|cmamma

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about COMBINED MALONIC AND METHYLMALONIC ACIDEMIA

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 PEX2 gene have cells of complementation group 5 (CG5, equivalent to CG10 and CGF). For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 5B; PBD5B

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

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

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Spasticity Apnea Neonatal hypotonia Vomiting Intellectual disability Feeding difficulties Status epilepticus Fever Dystonia

Rare Symptoms - Less than 30% cases

Chorea Abnormality of movement Gait disturbance Gait ataxia Dysarthria Bronchiolitis Abnormal lung morphology Recurrent pneumonia Absent speech Hyperkinesis Microcephaly Coma Tetraplegia Failure to thrive Involuntary movements Tremor Polyneuropathy Diarrhea Hypertonia Rigidity Visual impairment Gliosis Encephalopathy Abnormal pyramidal sign Cyanosis Developmental stagnation Generalized myoclonic seizures Epileptic encephalopathy Cerebral visual impairment Elevated serum creatine phosphokinase Myopathy Pallor Cough Cardiomyopathy Spastic tetraplegia Muscle weakness Hallucinations Foot dorsiflexor weakness Encephalitis Severe vision loss Increased CSF protein Cerebral edema Abnormal posturing Hypertrophic cardiomyopathy Ocular flutter Abnormality of carboxylic acid metabolism Cerebral palsy Generalized muscle weakness Abnormality of the eye Irritability Abnormality of eye movement Dyskinesia Parkinsonism Bradykinesia Delayed gross motor development Acute encephalopathy Hypokinesia Limb dystonia Limb hypertonia Hypomimic face Morphological abnormality of the pyramidal tract Orofacial dyskinesia Oculogyric crisis Abducens palsy Abnormal muscle tone Constipation Progressive cerebellar ataxia Rod-cone dystrophy Joint laxity Dysmetria Unsteady gait Falls Retinal dystrophy Abnormal cerebellum morphology Apraxia Hyporeflexia Broad-based gait Decreased liver function Oculomotor apraxia Gaze-evoked nystagmus Difficulty running Slow saccadic eye movements Very long chain fatty acid accumulation Pes cavus Areflexia Necrotizing encephalopathy Memory impairment Polyneuritis Acute necrotizing encephalopathy Acidosis Hypoglycemia Elevated hepatic transaminase Mental deterioration Aciduria Dehydration Cerebellar atrophy Tachypnea Ketoacidosis Methylmalonic aciduria Methylmalonic acidemia Generalized clonic seizures Hearing impairment Nystagmus Sensorineural hearing impairment Gastroesophageal reflux Cognitive impairment Autophagic vacuoles Respiratory insufficiency Bronchiolitis obliterans Motor delay Edema Skeletal muscle atrophy Ventricular septal defect Respiratory distress Abnormality of the thymus Atrial septal defect Hemiclonic seizures Recurrent respiratory infections Respiratory failure Atypical absence seizures Hypothyroidism Difficulty walking Increased sensitivity to ionizing radiation Dermal translucency Abnormal cardiac septum morphology Increased serum lactate Hypertelorism Nephrotic syndrome Abnormal facial shape Depressed nasal bridge Immunodeficiency Recurrent infections Midface retrusion Eczema Blindness Proteinuria Wide anterior fontanel Failure to thrive in infancy Emphysema Chromosome breakage Mild global developmental delay Prominent superficial veins Respiratory tract infection Aspiration pneumonia Abnormality of the nervous system Clonus Developmental regression Generalized tonic-clonic seizures Delayed myelination Focal-onset seizure Neuronal loss in central nervous system Hypsarrhythmia Progressive microcephaly Muscle fibrillation Myoclonus Poor eye contact Epileptic spasms Flushing Multifocal seizures Focal motor seizures Episodic vomiting Flexion contracture Cerebral cortical atrophy Febrile seizures Sleep disturbance Athetosis Asthma Focal impaired awareness seizure Choreoathetosis Aspiration Infantile muscular hypotonia Limb ataxia Neonatal respiratory distress Interstitial pulmonary abnormality Hypoplasia of the corpus callosum Abnormality of the thyroid gland Congenital hypothyroidism Parkinsonism with favorable response to dopaminergic medication Increased thyroid-stimulating hormone level Compensated hypothyroidism Thyroid dysgenesis Hyperreflexia Elevated levels of phytanic acid


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