Delayed speech and language development, and Dystonia

Diseases related with Delayed speech and language development and Dystonia

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


Top matches:

Medium match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6; MRT6

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Abnormal facial shape


SOURCES: UMLS OMIM MONDO MESH

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6; MRT6

Low match MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4; MC3DN4

Related symptoms:

  • Autosomal recessive inheritance
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Motor delay


SOURCES: UMLS MONDO DOID OMIM

More info about MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4; MC3DN4

Low match DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE; DYT2

Torsion dystonia-2 is an autosomal recessive neurologic disorder characterized by onset of symptoms in childhood or adolescence. 'Dystonia' is characterized by involuntary, sustained muscle contractions affecting 1 or more sites of the body; 'torsion' refers to the twisting nature of body movements observed in dystonia. DYT2 first affects distal limbs and later involves the neck, orofacial, and craniocervical regions. DYT2 is slowly progressive but mild overall (summary by Muller and Kupke, 1990; Nemeth, 2002; Khan et al., 2003).

DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE; DYT2 Is also known as dystonia musculorum deformans 2;dyt2

Related symptoms:

  • Autosomal recessive inheritance
  • Delayed speech and language development
  • Dysarthria
  • Gait disturbance
  • Tremor


SOURCES: GARD DOID ORPHANET UMLS MONDO NCIT OMIM MESH

More info about DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE; DYT2

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Other less relevant matches:

Low match STRIATONIGRAL DEGENERATION, CHILDHOOD-ONSET; SNDC

STRIATONIGRAL DEGENERATION, CHILDHOOD-ONSET; SNDC Is also known as lenk-ploski syndrome;lenk-ploski syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Delayed speech and language development
  • Hyperreflexia
  • Dysphagia
  • Hypertonia


SOURCES: ORPHANET OMIM UMLS MONDO

More info about STRIATONIGRAL DEGENERATION, CHILDHOOD-ONSET; SNDC

Low match HYPERPHENYLALANINEMIA, MILD, NON-BH4-DEFICIENT; HPANBH4

Mild non-BH4-deficient hyperphenylalaninemia (HPANBH4) is an autosomal recessive disorder characterized by increased serum phenylalanine usually detected by newborn screening and associated with highly variable neurologic defects, including movement abnormalities and intellectual disability. Laboratory analysis shows dopamine and serotonin deficiencies in the cerebrospinal fluid, and normal BH4 metabolism. Evidence suggests that treatment with neurotransmitter precursors can lead to clinical improvement or even prevent the neurologic defects if started in infancy (summary by Anikster et al., 2017).

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: ORPHANET OMIM UMLS MONDO

More info about HYPERPHENYLALANINEMIA, MILD, NON-BH4-DEFICIENT; HPANBH4

Low match LOPES-MACIEL-RODAN SYNDROME; LOMARS

Related symptoms:

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


SOURCES: UMLS OMIM

More info about LOPES-MACIEL-RODAN SYNDROME; LOMARS

Low match COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13; COXPD13

Combined oxidative phosphorylation defect type 13 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by normal early development followed by the sudden onset in infancy of poor feeding, dysphagia, truncal (followed by global) hypotonia, motor regression, abnormal movements (i.e. severe dystonia of limbs, choreoathetosis, facial dyskinesias) and reduced tendon reflexes. The disease course is severe but nonprogressive.

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13; COXPD13 Is also known as ;coxpd13

Related symptoms:

  • Autosomal recessive inheritance
  • Generalized hypotonia
  • Growth delay
  • Muscle weakness
  • Myopathy


SOURCES: OMIM ORPHANET MONDO UMLS

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13; COXPD13

Low match DYSTONIA 16; DYT16

Dystonia 16 (DYT16) is a very rare and newly discovered movement disorder which is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism.

DYSTONIA 16; DYT16 Is also known as ;dyt16; early-onset dystonia parkinsonism

Related symptoms:

  • Autosomal recessive inheritance
  • Global developmental delay
  • Motor delay
  • Cognitive impairment
  • Delayed speech and language development


SOURCES: MESH GARD MONDO DOID SCTID OMIM UMLS ORPHANET

More info about DYSTONIA 16; DYT16

Low match SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY; SSADHD

Succinic semialdehyde dehydrogenase deficiency (SSADHD) is a rare autosomal recessive neurologic disorder in which an enzyme defect in the GABA degradation pathway causes a consecutive elevation of gamma-hydroxybutyric acid (GHB) and GABA. The clinical features include developmental delay, hypotonia, mental retardation, ataxia, seizures, hyperkinetic behavior, aggression, and sleep disturbances (summary by Reis et al., 2012).

SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY; SSADHD Is also known as ssadh deficiency, 4-hydroxybutyric aciduria, gaba metabolic defect, gamma-hydroxybutyric aciduria;4-hydroxybutyric aciduria; gamma-hydroxybutyric aciduria; ssadh deficiency

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: ORPHANET MONDO MESH SCTID DOID GARD UMLS OMIM

More info about SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY; SSADHD

Low match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17; EIEE17

Early infantile epileptic encephalopathy-17 is a severe neurologic disorder characterized by onset of intractable seizures in the first weeks or months of life and usually associated with EEG abnormalities. Affected infants have very poor psychomotor development and may have brain abnormalities, such as cerebral atrophy or thin corpus callosum. Some patients may show involuntary movements (summary by Nakamura et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: GARD UMLS MONDO OMIM

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17; EIEE17

Top 5 symptoms//phenotypes associated to Delayed speech and language development and Dystonia

Symptoms // Phenotype % cases
Autosomal recessive inheritance Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Delayed speech and language development and Dystonia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Absent speech Motor delay Dysphagia Athetosis Muscular hypotonia of the trunk Hyperreflexia Bradykinesia Tremor

Rare Symptoms - Less than 30% cases


Ataxia Torticollis Parkinsonism Feeding difficulties Pain Craniofacial dystonia EEG abnormality Chorea Focal seizures Developmental regression Progressive Hypertonia Facial grimacing Generalized dystonia Gait disturbance Cognitive impairment Limb dystonia Myoclonus Dysarthria Infantile onset Abnormal pyramidal sign Hyporeflexia Severe global developmental delay Limb pain Morphological abnormality of the pyramidal tract Anxiety Aggressive behavior Language impairment Intellectual disability, moderate Autism Hyperactivity Laryngeal dystonia Postural tremor Retrocollis Lower limb pain Behavioral abnormality Abnormality of metabolism/homeostasis Tics Akinesia Abnormality of the nervous system Strabismus Muscular hypotonia Absence seizures Abnormality of the eye Disinhibition Epileptic encephalopathy Hypsarrhythmia Delayed myelination Encephalopathy Cerebral atrophy Arrhythmia Hypoplasia of the corpus callosum Microcephaly Autosomal dominant inheritance Paroxysmal dystonia Cataplexy Hyperkinesis Autistic behavior Self-injurious behavior Oculomotor apraxia Dysphonia Hallucinations Clumsiness Status epilepticus Generalized tonic-clonic seizures Psychosis Apraxia Generalized myoclonic seizures Aciduria Abnormality of eye movement Involuntary movements High myopia Ischemic stroke Blepharospasm Excessive salivation Steppage gait Drooling Frequent falls Falls Unsteady gait Elevated serum creatine phosphokinase Oromandibular dystonia Torsion dystonia Mutism Nystagmus Juvenile onset Slow progression Restlessness Inability to walk Abnormality of extrapyramidal motor function Increased serum lactate Dementia Intellectual disability, severe Clonus Abnormal facial shape Loss of ability to walk Intellectual disability, mild Stroke Central hypotonia Rigidity Severe muscular hypotonia Decreased nerve conduction velocity Choreoathetosis Dyskinesia Skeletal muscle atrophy Myopathy Muscle weakness Growth delay Bruxism Focal seizures with impairment of consciousness or awareness Obesity Spastic tetraparesis Tetraparesis Poor speech Kyphosis Myopia Scoliosis Hyperphenylalaninemia Hypomimic face Broad-based gait Attention deficit hyperactivity disorder Generalized tonic seizures



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