Hyperreflexia, and Respiratory failure

Diseases related with Hyperreflexia and Respiratory failure

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

Top matches:

PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE; PARK2 Is also known as pdj|parkinson disease, juvenile, autosomal recessive|parkinsonism, early-onset, with diurnal fluctuation|epdf

Related symptoms:

  • Neoplasm
  • Peripheral neuropathy
  • Hyperreflexia
  • Tremor
  • Gait disturbance


SOURCES: OMIM MENDELIAN

More info about PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE; PARK2

ALS17 is an adult-onset progressive neurodegenerative disorder with predominantly lower motor neuron involvement, manifest as muscle weakness and wasting of the upper and lower limbs, bulbar signs, and respiratory insufficiency (summary by Cox et al., 2010).

AMYOTROPHIC LATERAL SCLEROSIS 17; ALS17 Is also known as amyotrophic lateral sclerosis, chmp2b-related

Related symptoms:

  • Muscle weakness
  • Dysarthria
  • Skeletal muscle atrophy
  • Dysphagia
  • Respiratory insufficiency


SOURCES: MESH OMIM MENDELIAN

More info about AMYOTROPHIC LATERAL SCLEROSIS 17; ALS17

Related symptoms:

  • Cognitive impairment
  • Hyperreflexia
  • Skeletal muscle atrophy
  • Tremor
  • Babinski sign


SOURCES: OMIM MESH MENDELIAN

More info about PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK7

Other less relevant matches:

Severe neonatal-onset encephalopathy with microcephaly is a rare monogenic disease with epilepsy characterized by neonatal-onset encephalopathy, microcephaly, severe developmental delay or absent development, breathing abnormalities (including central hypoventilation and/or respiratory insufficiency), intractable seizures, abnormal muscle tone and involuntary movements. Early death is usual.

SEVERE NEONATAL-ONSET ENCEPHALOPATHY WITH MICROCEPHALY Is also known as severe congenital encephalopathy due to mecp2 mutation

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SEVERE NEONATAL-ONSET ENCEPHALOPATHY WITH MICROCEPHALY

Hyperekplexia-4 is an autosomal recessive severe neurologic disorder apparent at birth. Affected infants have extreme hypertonia and appear stiff and rigid. They have little if any development, poor or absent visual contact, and no spontaneous movement, consistent with an encephalopathy. Some patients have early-onset refractory seizures, and many have inguinal or umbilical hernia. Most patients die in the first months of life due to respiratory failure or other complications (summary by Piard et al., 2018).For a general description and a discussion of genetic heterogeneity of hyperekplexia, see HKPX1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Flexion contracture
  • High palate
  • Hyperreflexia


SOURCES: OMIM MENDELIAN

More info about HYPEREKPLEXIA 4; HKPX4

Mitochondrial complex III deficiency, nuclear type 8, is an autosomal recessive disorder characterized by progressive neurodegeneration with onset in childhood. Affected individuals may have normal or delayed early development, and often have episodic acute neurologic decompensation and regression associated with febrile illnesses. The developmental regression results in variable intellectual disability and motor deficits, such as hypotonia, axial hypertonia, and spasticity; some patients may lose the ability to walk independently. Laboratory studies show increased serum lactate and isolated deficiency of mitochondrial complex III in skeletal muscle and fibroblasts. Brain imaging shows a characteristic pattern of multifocal small cystic lesions in the periventricular and deep cerebral white matter (summary by Dallabona et al., 2016).For a discussion of genetic heterogeneity of mitochondrial complex III deficiency, see MC3DN1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8; MC3DN8

Encephalopathy due to defective mitochondrial and peroxisomal fission-2 is an autosomal recessive disorder characterized by delayed psychomotor development, severe hypotonia with inability to walk, microcephaly, and abnormal signals in the basal ganglia. More variable features include early-onset seizures, optic atrophy, and peripheral neuropathy (summary by Koch et al., 2016).For a discussion of genetic heterogeneity of EMPF, see EMPF1 (OMIM ).

MFF-RELATED ENCEPHALOPATHY DUE TO MITOCHONDRIAL AND PEROXISOMAL FISSION DEFECT Is also known as leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome|leigh-like encephalopathy-optic atrophy-peripheral neuropathy syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MFF-RELATED ENCEPHALOPATHY DUE TO MITOCHONDRIAL AND PEROXISOMAL FISSION DEFECT

Thiamine metabolism dysfunction syndrome-2 is an autosomal recessive metabolic disorder characterized by episodic encephalopathy, often triggered by febrile illness, presenting as confusion, seizures, external ophthalmoplegia, dysphagia, and sometimes coma and death. Administration of high doses of biotin, and sometimes thiamine, during these crises results in partial or complete improvement within days. If untreated, encephalopathies can result in permanent dystonia. Brain imaging may show characteristic bilateral lesions of the basal ganglia. It is not known why biotin administration results in clinical improvement, as the molecular basis of the disorder is mutation in a gene encoding a thiamine transporter. However, biotin may increase the gene expression of SLC19A3 (summary by Debs et al., 2010).For a discussion of genetic heterogeneity of disorders due to thiamine metabolism dysfunction, see THMD1 (OMIM ).

BIOTIN-THIAMINE-RESPONSIVE BASAL GANGLIA DISEASE Is also known as btbgd|basal ganglia disease, biotin-responsive|biotin-responsive basal ganglia disease|bbgd|encephalopathy, thiamine-responsive

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about BIOTIN-THIAMINE-RESPONSIVE BASAL GANGLIA DISEASE

Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities.

SPINOCEREBELLAR ATAXIA TYPE 1 Is also known as sca1

Related symptoms:

  • Generalized hypotonia
  • Nystagmus
  • Cognitive impairment
  • Peripheral neuropathy
  • Dysarthria


SOURCES: ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 1

Vocal cord and pharyngeal distal myopathy (VCPDM) is a rare autosomal dominant distal myopathy characterized by adult onset of muscle weakness in the feet and hands (slowly progressing to involve proximal limb muscles) combined with vocal or swallowing dysfunction and frequent respiratory muscle involvement in later stages. Normal to mildly elevated creatine kinase (CK) serum levels and rimmed-vacuolated dystrophic muscle fiber changes are associated laboratory and pathologic findings.

VOCAL CORD AND PHARYNGEAL DISTAL MYOPATHY Is also known as mpd2, formerly|myopathy, distal, 2, formerly|vocal cord and pharyngeal dysfunction with distal myopathy, formerly|matr3-related distal myopathy|distal myopathy with vocal cord weakness|vcpdm, formerly|vcpdm

Related symptoms:

  • Muscle weakness
  • Spasticity
  • Cognitive impairment
  • Hyperreflexia
  • Dysarthria


SOURCES: OMIM ORPHANET MENDELIAN

More info about VOCAL CORD AND PHARYNGEAL DISTAL MYOPATHY

Top 5 symptoms//phenotypes associated to Hyperreflexia and Respiratory failure

Symptoms // Phenotype % cases
Dysarthria Uncommon - Between 30% and 50% cases
Encephalopathy Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Dysphagia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hyperreflexia and Respiratory failure. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Rigidity Skeletal muscle atrophy Respiratory insufficiency Babinski sign Fasciculations Brisk reflexes Spasticity Hypertonia Seizures Dystonia Cognitive impairment Amyotrophic lateral sclerosis Muscle weakness Peripheral neuropathy Neurodegeneration Intellectual disability Nystagmus Bulbar signs Bradykinesia External ophthalmoplegia Tremor Gait disturbance Dementia Cerebral atrophy

Rare Symptoms - Less than 30% cases

Muscular hypotonia of the trunk Myoclonus Cerebellar atrophy Ophthalmoplegia Limb muscle weakness Irritability Inability to walk Postural tremor Ataxia Cogwheel rigidity Microcephaly Atrophy/Degeneration affecting the brainstem Failure to thrive Tongue atrophy Tongue fasciculations Tetraparesis Abnormal lower motor neuron morphology Progressive neurologic deterioration Hypsarrhythmia Ophthalmoparesis Hyporeflexia Lower limb muscle weakness Respiratory insufficiency due to muscle weakness Optic atrophy Parkinsonism Optic disc pallor Dysmetria Progressive cerebellar ataxia Chorea Abnormality of eye movement Loss of speech Focal motor seizures Craniofacial dystonia Acute encephalopathy Abnormality of the basal ganglia Morphological abnormality of the pyramidal tract Neoplasm Abnormality of mitochondrial metabolism Confusion Fever Intellectual disability, mild Gait ataxia Abnormality of the nervous system Facial palsy Paralysis Abnormal pyramidal sign Coma Focal impaired awareness seizure Focal-onset seizure Generalized-onset seizure Slurred speech Status epilepticus Paraparesis Mutism Bilateral ptosis Memory impairment Difficulty walking Dysdiadochokinesis Weak voice Decreased nerve conduction velocity Nasal speech Mildly elevated creatine phosphokinase Bulbar palsy Rimmed vacuoles Shoulder girdle muscle weakness Exercise-induced myalgia Axial muscle weakness Abnormal upper motor neuron morphology Hoarse voice Abnormality of the nasopharynx Vocal cord paresis Inflammatory myopathy Distal upper limb amyotrophy Ankle weakness Abnormality of the calf musculature Bowing of the vocal cords Abnormality of the extraocular muscles Imperfect vocal cord adduction EMG abnormality Aspiration Hyperactive deep tendon reflexes Loss of Purkinje cells in the cerebellar vermis Slow saccadic eye movements Impaired proprioception Gait imbalance Abnormality of brainstem morphology Abnormal nerve conduction velocity Hypermetric saccades Upgaze palsy Inertia Staring gaze Abnormality of somatosensory evoked potentials Split hand Abnormal flash visual evoked potentials Abnormality of masticatory muscle Myopathy Elevated serum creatine phosphokinase Myalgia Distal muscle weakness Unsteady gait Distal sensory impairment Sensory impairment Ptosis Hypoplasia of the corpus callosum Severe muscular hypotonia Bulimia Anxiety Aggressive behavior Urinary incontinence Resting tremor Blepharospasm Psychotic episodes Growth delay Spastic dysarthria Feeding difficulties Intellectual disability, severe Vomiting Constipation Gastroesophageal reflux EEG abnormality Apnea Motor neuron atrophy Frontotemporal dementia Polymicrogyria Neuronal loss in central nervous system Diabetes mellitus Abnormality of movement Peripheral axonal neuropathy Dyskinesia Postural instability Abnormal cerebellum morphology Gliosis Impaired vibratory sensation Areflexia Alzheimer disease Sensory axonal neuropathy Neurofibrillary tangles Lewy bodies Senile plaques Olivopontocerebellar atrophy Substantia nigra gliosis Feeding difficulties in infancy Postnatal microcephaly Clonus Spastic tetraparesis Dyspnea Acidosis Developmental regression Lethargy Lactic acidosis Increased serum lactate Exotropia Leukoencephalopathy Exaggerated startle response Failure to thrive in infancy Stridor Abnormality of the periventricular white matter Visual impairment Absent speech Visual loss Epileptic encephalopathy Anemia Distal arthrogryposis Progressive microcephaly High palate Intellectual disability, progressive Poor eye contact Hypoventilation Central hypoventilation Abnormal muscle tone Congenital encephalopathy Flexion contracture Respiratory distress Adducted thumb Hernia Inguinal hernia Kyphoscoliosis Umbilical hernia Camptodactyly Arthrogryposis multiplex congenita Delayed myelination Abnormality of musculature of pharynx


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