Failure to thrive, and Dystonia

Diseases related with Failure to thrive and Dystonia

In the following list you will find some of the most common rare diseases related to Failure to thrive and Dystonia that can help you solving undiagnosed cases.

Top matches:

A very rare disorder caused by mutation in the SCN11A gene. Affected individuals are unable to experience pain since birth resulting in self-inflicted injuries.

HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 7 Is also known as hereditary sensory and autonomic neuropathy with hyperhidrosis and gastrointestinal dysfunction|cip with hyperhidrosis and gastrointestinal dysfunction|hsan with hyperhidrosis and gastrointestinal dysfunction|congenital insensitivity to pain with hyperhid

Related symptoms:

  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness
  • Pain
  • Motor delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 7

Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency is a rare inborn error of metabolism disease characterized by mild to moderate, persistent elevation of methylmalonic acid in plasma, urine and cerebrospinal fluid. Clinical presentation may include acute metabolic decompensation with metabolic acidosis (presenting with vomiting, dehydration, confusion, hallucinations), nonspecific neurological symptoms, or may also be asymptomatic.

METHYLMALONIC ACIDEMIA DUE TO METHYLMALONYL-COA EPIMERASE DEFICIENCY Is also known as methylmalonic acidemia due to methylmalonyl-coa racemase deficiency|methylmalonyl-coa racemase deficiency|methylmalonic aciduria due to methylmalonyl-coa racemase deficiency|methylmalonic aciduria due to methylmalonyl-coa epimerase deficiency|mcee deficie

Related symptoms:

  • Failure to thrive
  • Spasticity
  • Motor delay
  • Macrocephaly
  • Hydrocephalus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about METHYLMALONIC ACIDEMIA DUE TO METHYLMALONYL-COA EPIMERASE DEFICIENCY

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29; EIEE29

Other less relevant matches:

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44; EIEE44

Multiple mitochondrial dysfunctions syndrome-6 is an autosomal recessive severe neurodegenerative disorder with onset in early childhood. Affected individuals may have initial normal development, but show neurologic regression in the first year of life. They have hypotonia, inability to walk, poor speech, intellectual disability, and motor abnormalities, such as ataxia, dystonia, and spasticity. Some patients may die in childhood. Laboratory evidence indicates that the disorder results from mitochondrial dysfunction (summary by Vogtle et al., 2018).For a general description and a discussion of genetic heterogeneity of multiple mitochondrial dysfunctions syndrome, see MMDS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6; MMDS6

Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome is a rare genetic neurological disorder characterized by intrauterine growth retardation, failure to thrive, infantile onset of sensorineural deafness, severe global developmental delay or absent psychomotor development, paraplegia or quadriplegia with dystonia and pyramidal signs, microcephaly, ocular abnormalities (strabismus, optic atrophy), mildly dysmorphic features (deep-set eyes, prominent nasal bridge, micrognathia), seizures and abnormalities of brain morphology (hypomyelinating white matter changes, cerebral atrophy).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE MOTOR AND INTELLECTUAL DISABILITIES-SENSORINEURAL DEAFNESS-DYSTONIA SYNDROME

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

Bilateral striatal necrosis (BSN) encompasses a heterogeneous group of neurologic disorders with different causation. Familial infantile striatal degeneration is rare and can be inherited as an autosomal recessive or mitochondrial (see {500003}) disorder. The familial form has an insidious onset and a slowly progressive course; the sporadic form is associated with acute systemic illness. Many features of BSN overlap with Leigh syndrome (OMIM ) and certain metabolic disorders, including glutaric acidemia I (OMIM ) and methylmalonic aciduria (OMIM ). See also Aicardi-Goutieres syndrome (OMIM ) (Mito et al., 1986; De Meirleir et al., 1995). Genetic Heterogeneity of Stiatonigral DegenerationChildhood-onset striatonigral degeneration (OMIM ) is caused by mutation in the VAC14 gene (OMIM ) on chromosome 16q22.See also adult-onset autosomal dominant striatal degeneration (ADSD ), caused by mutation in the PDE8B gene (OMIM ) on chromosome 5q13.

STRIATONIGRAL DEGENERATION, INFANTILE; SNDI Is also known as striatal degeneration, familial|bilateral striatal necrosis, infantile|ibsn|infantile bilateral striatal necrosis

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Nystagmus
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about STRIATONIGRAL DEGENERATION, INFANTILE; SNDI

CONDBA is a severe progressive neurodegenerative disorder characterized by loss of motor and cognitive skills between ages 2 and 7 years. Affected individuals may have normal development or mild developmental delay, but all eventually lose all motor skills, resulting in inability to walk, absence of language, and profound intellectual disability. Brain imaging shows progressive cerebral and cerebellar atrophy (summary by Edvardson et al., 2017).

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CHILDHOOD-ONSET MOTOR AND COGNITIVE REGRESSION SYNDROME WITH EXTRAPYRAMIDAL MOVEMENT DISORDER

Autosomal recessive spastic paraplegia type 53 (SPG53) is a very rare, complex type of hereditary spastic paraplegia characterized by early-onset spastic paraplegia (with spasticity in the lower extremities that progresses to the upper extremities) associated with developmental and motor delay, mild to moderate cognitive and speech delay, skeletal dysmorphism (e.g. kyphosis and pectus), hypertrichosis and mildly impaired vibration sense. SPG53 is due to mutations in the VPS37A gene (8p22) encoding vacuolar protein sorting-associated protein 37A.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 53 Is also known as spg53

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Failure to thrive
  • Spasticity


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 53

Top 5 symptoms//phenotypes associated to Failure to thrive and Dystonia

Symptoms // Phenotype % cases
Spasticity Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Failure to thrive and Dystonia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Cerebellar atrophy Microcephaly Ataxia Developmental regression Encephalopathy Cerebral atrophy Hypertonia Feeding difficulties Hypoplasia of the corpus callosum Nystagmus Absent speech Cerebral cortical atrophy Optic atrophy Neurodegeneration Acidosis Motor delay

Rare Symptoms - Less than 30% cases

Failure to thrive in infancy Dysarthria Brain atrophy Intellectual disability, severe Abnormality of eye movement Abnormal pyramidal sign Hyperactivity Dysphagia Leukoencephalopathy Optic disc pallor Generalized-onset seizure Gliosis Increased serum lactate Muscular hypotonia of the trunk Irritability Postnatal microcephaly Gait disturbance Tetraplegia Inability to walk Hearing impairment CNS hypomyelination Intrauterine growth retardation Aciduria Muscle weakness Axonal loss Gastroesophageal reflux Methylmalonic aciduria Vomiting Short stature Peripheral neuropathy Chorea Epileptic encephalopathy Diarrhea Developmental stagnation Mental deterioration Abnormality of movement Rigidity Visual impairment Glutaric acidemia Postural instability Abnormality of the basal ganglia Neuronal loss in central nervous system Pendular nystagmus Involuntary movements Choreoathetosis Premature birth Pain Nausea Nausea and vomiting Abnormality of the eye Myoclonus Abnormality of the periventricular white matter Brisk reflexes Stridor Parkinsonism Impulsivity Peripheral demyelination Spastic paraplegia Abnormality of the auditory canal Hyperreflexia in upper limbs Impaired proprioception Limb dystonia Cortical dysplasia Impaired vibratory sensation Clonus Lower limb spasticity Hypertrichosis Paraplegia Joint hyperflexibility Pectus carinatum Intellectual disability, profound Difficulty walking Kyphosis Ventriculomegaly Delayed speech and language development Cognitive impairment Anarthria Motor deterioration High pitched voice Spastic tetraparesis Language impairment Increased body weight External ophthalmoplegia Ophthalmoplegia Exotropia Mask-like facies Macrocephaly Hydrocephalus Dysmetria Poor speech Metabolic acidosis Visual loss Dehydration Progressive encephalopathy Poor eye contact Opisthotonus Athetosis Pain insensitivity Tachypnea Hypsarrhythmia Delayed myelination Generalized myoclonic seizures Ketonuria Methylmalonic acidemia Areflexia Hip dislocation Dyskinesia Congenital microcephaly Diffuse cerebral atrophy Spastic tetraplegia Poor head control Progressive neurologic deterioration Cerebral white matter atrophy Tetraparesis Lactic acidosis Blepharospasm Lethargy Dyspnea Respiratory failure Constipation Hyperhidrosis Hyperreflexia Anemia Cerebral hypomyelination Abnormality of mitochondrial metabolism Corpus callosum atrophy Episodic fever Pruritus Abnormal autonomic nervous system physiology Joint dislocation Aggressive behavior Elevated hepatic transaminase Abnormal facial shape Sensorineural hearing impairment Strabismus Chronic constipation Upper limb hypertonia


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