Delayed speech and language development, and Urinary incontinence

Diseases related with Delayed speech and language development and Urinary incontinence

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


Top matches:

Medium match EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD

Focal epilepsy with speech disorder is a childhood-onset seizure disorder with a highly variable phenotype. Seizures typically occur in the temporal lobe, or rolandic brain region, which affects speech and language, and electroencephalogram (EEG) characteristically shows centrotemporal spike-wave discharges. EEG abnormalities often occur during sleep and may manifest as continuous spike-wave discharges during slow-wave sleep (CSWS or CSWSS). FESD represents an electroclinical spectrum that ranges from severe early-onset seizures associated with delayed psychomotor development, persistent speech difficulties, and mental retardation to a more benign entity characterized by childhood onset of mild or asymptomatic seizures associated with transient speech difficulties followed by remission of seizures in adolescence and normal psychomotor development. There is incomplete penetrance and intrafamilial variability, even among family members who carry the same GRIN2A mutation (summary by Lesca et al., 2013; Lemke et al., 2013; Carvill et al., 2013).The disorder represented here encompasses several clinical entities, including Landau-Kleffner syndrome (LKS), epileptic encephalopathy with continuous spike and wave during slow-wave sleep (ECSWS; CSWSS), autosomal dominant rolandic epilepsy, mental retardation, and speech dyspraxia (ADRESD; RESDAD), and benign epilepsy with centrotemporal spikes (BECTS; see {117100}). LKS is classically described as a childhood-onset variant of epileptic aphasia. It is associated with EEG abnormalities occurring in the temporal lobe of the language-dominant hemisphere, even in the absence of overt clinical seizures. LKS is sometimes referred to as an 'acquired aphasia' because most affected children show normal psychomotor development until the onset of seizures, usually between 3 and 7 years, although some may have prior delayed development. A hallmark of the disorder is severe impairment in auditory language comprehension and speech. Some patients may also have persistent intellectual disability or behavioral abnormalities reminiscent of autism or attention deficit-hyperactivity disorder. EEG abnormalities typically include centrotemporal spikes suggestive of rolandic epilepsy or continuous spike and waves during slow-wave sleep. The presence of CSWS is associated with more widespread behavioral and cognitive regression than LKS, although the 2 disorders may be considered part of a spectrum. There is controversy about the precise definition of LKS and its relationship to CSWS that stems mainly from the phenotypic heterogeneity of the disorder (summary by Stefanatos, 2011).

EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD Is also known as aphasia, acquired, with epilepsy

Related symptoms:

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


SOURCES: OMIM

More info about EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD

Medium match PARKINSON DISEASE 1, AUTOSOMAL DOMINANT; PARK1

Parkinson disease is the second most common neurogenic disorder after Alzheimer disease (AD ), affecting approximately 1% of the population over age 50. Clinical manifestations include resting tremor, muscular rigidity, bradykinesia, and postural instability. Additional features are characteristic postural abnormalities, dysautonomia, dystonic cramps, and dementia (Polymeropoulos et al., 1996).For a general phenotypic description and a discussion of genetic heterogeneity of Parkinson disease, see {168600}.

PARKINSON DISEASE 1, AUTOSOMAL DOMINANT; PARK1 Is also known as parkinson disease 1, autosomal dominant lewy body

Related symptoms:

  • Autosomal dominant inheritance
  • Pica
  • Spasticity
  • Delayed speech and language development
  • Hyperreflexia


SOURCES: DOID UMLS OMIM MESH MONDO

More info about PARKINSON DISEASE 1, AUTOSOMAL DOMINANT; PARK1

Medium match GM1-GANGLIOSIDOSIS, TYPE III

GM1-gangliosidosis type III is an autosomal recessive lysosomal storage disorder characterized by neurodegeneration and mild skeletal changes. Age at onset ranges from 3 to 30 years. The disorder is less severe than GM1-gangliosidosis types I and II (OMIM ). Type III shows extreme clinical variability, with some patients having only focal neurologic signs, such as dystonia, and others having more severe involvement with extrapyramidal signs and mental retardation. GLB1 enzymatic activity usually ranges from approximately 4 to 10% of control values (Suzuki et al., 2001).

GM1-GANGLIOSIDOSIS, TYPE III Is also known as gangliosidosis, generalized gm1, adult type, gangliosidosis, generalized gm1, chronic type, gangliosidosis, generalized gm1, type iii, gangliosidosis, generalized gm1, type 3;adult-onset gm1 gangliosidosis

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis


SOURCES: OMIM GARD UMLS SCTID ORPHANET MONDO

More info about GM1-GANGLIOSIDOSIS, TYPE III

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Medium match 3-METHYLGLUTACONIC ACIDURIA, TYPE I; MGCA1

Type I MGCA is a rare autosomal recessive disorder of leucine catabolism. The metabolic landmark is urinary excretion of 3-methylglutaconic acid (3-MGA) and its derivatives 3-methylglutaric acid (3-MG) and 3-hydroxyisovaleric acid (3-HIVA). Two main presentations have been described: 1 with onset in childhood associated with the nonspecific finding of psychomotor retardation, and the other with onset in adulthood of a progressive neurodegenerative disorder characterized by ataxia, spasticity, and sometimes dementia; these patients develop white matter lesions in the brain. However, some asymptomatic pediatric patients have been identified by newborn screening and show no developmental abnormalities when reexamined later in childhood (summary by Wortmann et al., 2010). Genetic Heterogeneity and Classification of Methylglutaconic AciduriaMethylglutaconic aciduria is a clinically and genetically heterogeneous disorder. Type II MGCA (MGCA2), also known as Barth syndrome (BTHS ), is caused by mutation in the tafazzin gene (TAZ ) on chromosome Xq28. It is characterized by mitochondrial cardiomyopathy, short stature, skeletal myopathy, and recurrent infections; cognitive development is normal. Type III MGCA (MGCA3 ), caused by mutation in the OPA3 gene (OMIM ) on chromosome 19q13, involves optic atrophy, movement disorder, and spastic paraplegia. In types II and III, the elevations of 3-methylglutaconate and 3-methylglutarate in urine are modest. Type IV MGCA (MGCA4 ) represents an unclassified group of patients who have severe psychomotor retardation and cerebellar dysgenesis. Type V MGCA (MGCA5 ), caused by mutation in the DNAJC19 gene (OMIM ) on chromosome 3q26, is characterized by early-onset dilated cardiomyopathy with conduction defects, nonprogressive cerebellar ataxia, testicular dysgenesis, and growth failure in addition to 3-methylglutaconic aciduria (Chitayat et al., 1992; Davey et al., 2006). Type VI MGCA (MGCA6 ), caused by mutation in the SERAC1 gene (OMIM ) on chromosome 6q25, includes deafness, encephalopathy, and a Leigh-like syndrome. Type VII MGCA (MGCA7 ), caused by mutation in the CLPB gene (OMIM ) on chromosome 11q13, includes cataracts, neurologic involvement, and neutropenia. Type VIII MCGA (MGCA8 ) is caused by mutation in the HTRA2 gene (OMIM ) on chromosome 2p13. Type IX MCGA (MGCA9 ) is caused by mutation in the TIMM50 gene (OMIM ) on chromosome 19q13.Eriguchi et al. (2006) noted that type I MGCA is very rare, with only 13 patients reported in the literature as of 2003.Wortmann et al. (2013) proposed a pathomechanism-based classification for 'inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature.'

3-METHYLGLUTACONIC ACIDURIA, TYPE I; MGCA1 Is also known as mga, type i;mga1, 3-methylglutaconyl-coa hydratase deficiency, 3-mg-coa-hydratase deficiency;3-methylglutaconyl-coa hydratase deficiency; 3mg-coa hydratase deficiency; mga1

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Ataxia


SOURCES: SCTID ORPHANET MONDO MESH OMIM NCIT UMLS GARD DOID

More info about 3-METHYLGLUTACONIC ACIDURIA, TYPE I; MGCA1

Medium match NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4; NBIA4

Neurodegeneration with brain iron accumulation-4 (NBIA4) is an autosomal recessive neurodegenerative disorder characterized by progressive spastic paraplegia, parkinsonism unresponsive to L-DOPA treatment, and psychiatric or behavioral symptoms. Other neurologic features, including optic atrophy, eye movement abnormalities, dystonia, dysphagia, dysarthria, and motor axonal neuropathy, may occur. Brain MRI shows T2-weighted hypointensities in the globus pallidus and substantia nigra. Onset is usually in the first 2 decades, but later onset has been reported (summary by Dogu et al., 2013). There is phenotypic variation: some patients may not have extrapyramidal signs and may have muscle weakness and atrophy as well as cognitive impairment or developmental delay (Deschauer et al., 2012)For a general phenotypic description and a discussion of genetic heterogeneity of NBIA, see NBIA1 (OMIM ).

NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4; NBIA4 Is also known as mitochondrial protein-associated neurodegeneration;mpan;mpan; nbia due to c19orf12 mutation; nbia4; neurodegeneration with brain iron accumulation due to c19orf12 mutation; neurodegeneration with brain iron accumulation type 4

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Pica
  • Ataxia


SOURCES: OMIM DOID SCTID GARD UMLS ORPHANET MONDO

More info about NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4; NBIA4

Medium match MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE; MRXSCH

Christianson syndrome is an X-linked neurodevelopmental and progressive mental retardation syndrome characterized by microcephaly, impaired ocular movements, severe global developmental delay, developmental regression, hypotonia, abnormal movements, and early-onset seizures of variable types. Female carriers may be mildly affected (summary by Schroer et al., 2010 and Pescosolido et al., 2014).

MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE; MRXSCH Is also known as angelman-like syndrome, x-linked, mental retardation, microcephaly, epilepsy, and ataxia syndrome;x-linked angelman-like syndrome; x-linked intellectual disability, south african type; x-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy syndrome

Related symptoms:

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


SOURCES: ORPHANET MONDO GARD OMIM DOID UMLS MESH SCTID

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE; MRXSCH

Medium match ALLAN-HERNDON-DUDLEY SYNDROME; AHDS

Allan-Herndon-Dudley syndrome (AHDS) is an X-linked intellectual disability syndrome with neuromuscular involvement characterized by infantile hypotonia, muscular hypoplasia, spastic paraparesis with dystonic/athetoic movements, and severe cognitive deficiency.

ALLAN-HERNDON-DUDLEY SYNDROME; AHDS Is also known as allan-herndon syndrome, monocarboxylate transporter 8 deficiency, triiodothyronine resistance, t3 resistance, mental retardation, x-linked, with hypotonia, mental retardation and muscular atrophy;ahds; mct8 deficiency; monocarboxylate transporter 8 deficiency; x-linked intellectual disability-hypotonia syndrome

Related symptoms:

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


SOURCES: UMLS SCTID ORPHANET MONDO GARD NCIT OMIM DOID MESH

More info about ALLAN-HERNDON-DUDLEY SYNDROME; AHDS

Medium match SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE; SPG48

Autosomal recessive spastic paraplegia type 48 is a form of hereditary spastic paraplegia usually characterized by a pure phenotype of a slowly progressive spastic paraplegia associated with urinary incontinence with an onset in mid- to late-adulthood. A complex phenotype, with the additional findings of cognitive impairment, sensorimotor polyneuropathy, ataxia and parkinsonism, as well as thin corpus callosum and white matter lesions (seen on magnetic resonance imaging), has also been reported.

SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE; SPG48 Is also known as ;spg48

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Cognitive impairment


SOURCES: DOID OMIM MONDO ORPHANET UMLS

More info about SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE; SPG48

Medium match METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY

METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY Is also known as metachromatic leukodystrophy due to cerebroside sulfatase activator deficiency, saposin b deficiency

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Muscular hypotonia


SOURCES: MONDO SCTID GARD OMIM MESH

More info about METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY

Medium match CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z; CMT2Z

Charcot-Marie-Tooth disease type 2Z (CMT2Z) is an autosomal dominant peripheral neuropathy characterized by onset, usually in the first decade, of distal lower limb muscle weakness and sensory impairment. The disorder is progressive, and affected individuals tend to develop upper limb and proximal muscle involvement in an asymmetric pattern, resulting in severe disability late in adulthood (summary by Sevilla et al., 2016).For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (OMIM ).

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z; CMT2Z Is also known as charcot-marie-tooth disease, axonal, autosomal dominant, type 2z, charcot-marie-tooth neuropathy, type 2z;autosomal dominant charcot-marie-tooth disease type 2 due to morc2 mutation; cmt2z

Related symptoms:

  • Autosomal dominant inheritance
  • Global developmental delay
  • Generalized hypotonia
  • Pica
  • Hearing impairment


SOURCES: UMLS OMIM DOID ORPHANET MONDO

More info about CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z; CMT2Z

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

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Dysarthria Common - Between 50% and 80% cases
Hyperreflexia Common - Between 50% and 80% cases
Spasticity Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Dystonia

Uncommon Symptoms - Between 30% and 50% cases


Clonus

Common Symptoms - More than 50% cases


Seizures

Uncommon Symptoms - Between 30% and 50% cases


Skeletal muscle atrophy Intellectual disability Babinski sign Autosomal recessive inheritance Mental deterioration Generalized hypotonia Pica Cognitive impairment Encephalopathy Dysphagia Parkinsonism Peripheral neuropathy Microcephaly Tremor Progressive Myoclonus Dementia Rigidity Abnormal pyramidal sign Motor delay Muscle weakness Neuronal loss in central nervous system Severe global developmental delay Gait ataxia Nystagmus Scoliosis Hyperactive deep tendon reflexes Intellectual disability, mild Pes cavus Spastic tetraparesis Hyporeflexia Autosomal dominant inheritance Athetosis Developmental regression Abnormal facial shape Spastic paraplegia Intellectual disability, severe Paraplegia Spastic gait Hyperactivity Bowel incontinence Flexion contracture

Rare Symptoms - Less than 30% cases


Narrow face Gastroesophageal reflux Visual loss Intellectual disability, progressive Optic atrophy Drooling Leukodystrophy Loss of speech Generalized dystonia Muscular hypotonia Progressive spasticity Tetraplegia Lower limb muscle weakness Generalized amyotrophy Abnormality of the periventricular white matter Unsteady gait Difficulty walking Neurodegeneration Macrotia Distal muscle weakness Tetraparesis Peripheral axonal neuropathy Dysmetria Cerebellar atrophy Sensorimotor neuropathy Pectus excavatum Absent speech Gait disturbance Spastic tetraplegia Feeding difficulties in infancy Abnormality of the foot Long face Open mouth Spastic paraparesis Choreoathetosis X-linked dominant inheritance Elevated serum creatine phosphokinase Memory impairment Progressive visual loss Cerebral cortical atrophy Intention tremor Autism Behavioral abnormality Inability to walk Bradykinesia Postural instability Sleep disturbance Depressivity Aphasia Shuffling gait Dysphasia Dysdiadochokinesis Hemiparesis Generalized seizures Epileptic encephalopathy Progressive cerebellar ataxia Febrile seizures Lewy bodies Gliosis Hypertonia Slow progression Hypothyroidism Loss of ability to walk in first decade Intellectual disability, moderate Ptosis Feeding difficulties Tics Congenital onset Upslanted palpebral fissure Proptosis Brisk reflexes Pes planus Photosensitive tonic-clonic seizures Neonatal hypotonia Protruding ear Sensory axonal neuropathy Camptodactyly of finger Joint stiffness Abnormality of the pinna Abnormality of the nervous system Irritability Hammertoe Conspicuously happy disposition Inappropriate laughter Increased serum lactate Infantile muscular hypotonia Stereotypy Aplasia/Hypoplasia of the corpus callosum Decreased number of large peripheral myelinated nerve fibers Attention deficit hyperactivity disorder Cachexia Adducted thumb Mutism Involuntary movements Aplasia/Hypoplasia of the cerebellum Abnormality of the thorax Decreased muscle mass Death in early adulthood Long nose Atrophy/Degeneration affecting the brainstem Myokymia Slender finger Hyperkinesis High pitched voice Onion bulb formation Dyslexia Abnormality of the nose Happy demeanor Abnormality of movement Cerebral calcification Proximal muscle weakness Abnormality of the cervical spine Underfolded superior helices Hypoplasia of the corpus callosum Retinopathy Sensory neuropathy Lower limb spasticity Broad-based gait Urinary bladder sphincter dysfunction Milia Progressive spastic paraplegia Hyperintensity of cerebral white matter on MRI Abnormal conjugate eye movement Nevus Polyneuropathy Distal sensory impairment Peripheral demyelination Limb muscle weakness Decreased nerve conduction velocity Motor deterioration CNS demyelination Spastic hemiparesis Hearing impairment Stahl ear Prominent antihelix Generalized muscle weakness Hallux valgus Narrow forehead Bilateral single transverse palmar creases Dysphonia CNS hypomyelination Fasciculations Type I diabetes mellitus Poor head control Truncal ataxia Myopathic facies Foot dorsiflexor weakness Biparietal narrowing Muscle cramps Central hypotonia Hypoplasia of the zygomatic bone Macroorchidism Abnormality of the neck Delayed CNS myelination Split hand Hypoplasia of the musculature Rotary nystagmus Sensory impairment Increased thyroid-stimulating hormone level Autistic behavior Thick eyebrow Decreased body weight Aciduria Cerebral atrophy Acidosis Delusions Hypoventilation Orthostatic hypotension Hypoglycemia Hypokinesia Abnormality of the cerebral white matter Resting tremor Metabolic acidosis Urinary urgency Infantile onset Hallucinations Confusion Hypotension Dyskinesia Limb ataxia Paraparesis Leukoencephalopathy Short attention span Abnormality of the basal ganglia 3-Methylglutaconic aciduria Coma Hepatomegaly Progressive forgetfulness Diffuse cerebral atrophy Platyspondyly Abnormality of the face Opacification of the corneal stroma Dilatation Kyphosis Slurred speech Abnormality of blood and blood-forming tissues Short stature Insidious onset Central hypoventilation Flared iliac wings Failure to thrive Foam cells Facial grimacing Visceromegaly Angiokeratoma Hypoplastic acetabulae Stuttering Anterior beaking of lumbar vertebrae Decreased beta-galactosidase activity Dysplasia of the femoral head Parkinsonism with favorable response to dopaminergic medication Hyperchloremic acidosis Visual impairment Polymicrogyria Arthrogryposis multiplex congenita Abnormality of the substantia nigra Growth delay Strabismus Status epilepticus Pain Ventriculomegaly Mandibular prognathia Apraxia Abnormality of the eye Deeply set eye Joint hyperflexibility Abnormal saccadic eye movements Narrow chest Migraine Ophthalmoplegia Chorea Generalized myoclonic seizures Abnormality of eye movement Poor speech Focal seizures Intellectual disability, profound Postnatal microcephaly Abnormal globus pallidus morphology Craniofacial dystonia Anxiety Optic disc pallor Respiratory insufficiency Continuous spike and waves during slow sleep EEG with centrotemporal focal spike waves Oromotor apraxia Agnosia Perisylvian polymicrogyria Speech apraxia Distal amyotrophy Epileptic spasms Abnormal cerebellum morphology Abnormality of extrapyramidal motor function Oromandibular dystonia Frequent falls Language impairment Scapular winging Emotional lability Impulsivity Amyotrophic lateral sclerosis Motor polyneuropathy Hand tremor Motor axonal neuropathy Hypomimic face Abnormal lower motor neuron morphology Neck flexor weakness


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