Delayed speech and language development, and Areflexia

Diseases related with Delayed speech and language development and Areflexia

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


Top matches:

Medium match NEUROPATHY, HEREDITARY SENSORY, TYPE IIC; HSN2C

HSN2C is an autosomal recessive disorder characterized by onset in the first decade of progressive distal sensory loss leading to ulceration and amputation of the fingers and toes. Affected individuals also develop distal muscle weakness, primarily affecting the lower limbs (summary by Riviere et al., 2011).For a discussion of genetic heterogeneity of HSN, see HSAN1 (OMIM ).

Related symptoms:

  • Autosomal recessive inheritance
  • Global developmental delay
  • Short stature
  • Muscle weakness
  • Peripheral neuropathy


SOURCES: DOID MONDO OMIM UMLS

More info about NEUROPATHY, HEREDITARY SENSORY, TYPE IIC; HSN2C

Medium match COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6; COXPD6

Severe X-linked mitochondrial encephalomyopathy is an extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date.

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6; COXPD6 Is also known as encephalomyopathy, mitochondrial, x-linked;mitochondrial encephalomyopathy due to coxpd6; mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Motor delay
  • Muscle weakness


SOURCES: MONDO OMIM SCTID UMLS ORPHANET

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6; COXPD6

Medium match ATAXIA-TELANGIECTASIA-LIKE DISORDER

ATAXIA-TELANGIECTASIA-LIKE DISORDER Is also known as atld

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Ataxia
  • Delayed speech and language development
  • Dysarthria


SOURCES: UMLS ORPHANET

More info about ATAXIA-TELANGIECTASIA-LIKE DISORDER

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Other less relevant matches:

Low match YUAN-HAREL-LUPSKI SYNDROME; YUHAL

Yuan-Harel-Lupski syndrome is a complex neurodevelopmental disorder characterized by global developmental delay and early-onset peripheral neuropathy. The disorder comprises features of both demyelinating Charcot-Marie-Tooth disease type 1A (CMT1A ), which results from duplication of the PMP22 gene on 17p12, and Potocki-Lupski syndrome (PTLS ), which results from duplication of a slightly proximal region on 17p11.2 that includes the RAI1 gene. These 2 loci are about 2.5 Mb apart. The resultant YUHAL phenotype may be more severe in comparison to the individual contributions of each gene, with particularly early onset of peripheral neuropathy and features of both central and peripheral nervous system involvement (summary by Yuan et al., 2015).

YUAN-HAREL-LUPSKI SYNDROME; YUHAL Is also known as ;17p11.2p12 microduplication syndrome; dup(17)(p11.2p12); trisomy 17p11.2-p12; trisomy 17p11.2p12; yuan-harel-lupski syndrome

Related symptoms:

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


SOURCES: ORPHANET UMLS OMIM MONDO

More info about YUAN-HAREL-LUPSKI SYNDROME; YUHAL

Low match SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE; SPG9B

Autosomal recessive SPG9B is a neurologic disorder characterized by early-onset complex spastic paraplegia. Affected individuals had delayed psychomotor development, intellectual disability, and severe motor impairment. More variable features include dysmorphic facial features, tremor, and urinary incontinence (summary by Coutelier et al., 2015).For a discussion of genetic heterogeneity of autosomal recessive SPG, see SPG5A (OMIM ).

SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE; SPG9B Is also known as ;ar-spg9b

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: MONDO DOID ORPHANET OMIM UMLS

More info about SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE; SPG9B

Low match MYOPATHY, CENTRONUCLEAR, 2; CNM2

Autosomal recessive centronuclear myopathy (AR-CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.

MYOPATHY, CENTRONUCLEAR, 2; CNM2 Is also known as myopathy, centronuclear, autosomal recessive, myotubular myopathy, autosomal recessive;ar-cnm

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Generalized hypotonia
  • Pica
  • Scoliosis


SOURCES: OMIM MESH UMLS ORPHANET SCTID MONDO

More info about MYOPATHY, CENTRONUCLEAR, 2; CNM2

Low match ARTS SYNDROME; ARTS

Arts syndrome is an X-linked disorder characterized by mental retardation, early-onset hypotonia, ataxia, delayed motor development, hearing impairment, and optic atrophy (de Brouwer et al., 2007). Susceptibility to infections, especially of the upper respiratory tract, can result in early death.

ARTS SYNDROME; ARTS Is also known as mental retardation, x-linked, syndromic, arts type;mrxsarts, ataxia, fatal x-linked, with deafness and loss of vision, mental retardation, x-linked, syndromic 18;mrxs18;arts syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: MONDO DOID GARD OMIM UMLS SCTID MESH ORPHANET

More info about ARTS SYNDROME; ARTS

Low match PONTOCEREBELLAR HYPOPLASIA, TYPE 1B; PCH1B

Pontocerebellar hypoplasia type 1B is a severe autosomal recessive neurologic disorder characterized by a combination of cerebellar and spinal motor neuron degeneration beginning at birth. There is diffuse muscle weakness, progressive microcephaly, global developmental delay, and brainstem involvement (summary by Wan et al., 2012). PCH1B can be divided into mild, moderate, and severe subgroups that vary in age at onset, progression, clinical and neuroradiologic severity, and survival (summary by Halevy et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A (OMIM ).

Related symptoms:

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


SOURCES: MONDO OMIM DOID UMLS

More info about PONTOCEREBELLAR HYPOPLASIA, TYPE 1B; PCH1B

Low match NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB; HMSN6B

Hereditary motor and sensory neuropathy type VIB is an autosomal recessive complex progressive neurologic disorder characterized mainly by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity. Affected individuals also have cerebellar or pontocerebellar atrophy on brain imaging, and they may show abnormal movements, such as ataxia, dysmetria, and myoclonus. The most severely affected patients are hypotonic at birth and die in infancy (summary by Abrams et al., 2015 and Wan et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of HMSN6, see HMSN6A (OMIM ).

NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB; HMSN6B Is also known as hmsn vib, charcot-marie-tooth disease, type 6b;cmt6b

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MONDO UMLS

More info about NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB; HMSN6B

Low match MACHADO-JOSEPH DISEASE; MJD

Machado-Joseph disease, named for affected families of Azorean extraction, is an autosomal dominant progressive neurologic disorder characterized principally by ataxia, spasticity, and ocular movement abnormalities. Although independently described as a seemingly separate disorder, spinocerebellar ataxia-3 is now known to be the same as Machado-Joseph disease.Three classic clinical subtypes of MJD are recognized: type 1 with early onset and marked pyramidal and dystonic signs; type 2, or pure, with predominant cerebellar ataxia; and type 3 with later-onset and peripheral neuropathy (Franca et al., 2008).

MACHADO-JOSEPH DISEASE; MJD Is also known as spinocerebellar ataxia 3;sca3, spinocerebellar atrophy iii, azorean neurologic disease, spinopontine atrophy, nigrospinodentatal degeneration

Related symptoms:

  • Autosomal dominant inheritance
  • Pica
  • Ataxia
  • Nystagmus
  • Ptosis


SOURCES: UMLS OMIM ORPHANET SCTID

More info about MACHADO-JOSEPH DISEASE; MJD

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

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Peripheral neuropathy Common - Between 50% and 80% cases
Skeletal muscle atrophy Common - Between 50% and 80% 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 Areflexia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hyperreflexia Autosomal recessive inheritance Muscle weakness Visual impairment Flexion contracture Cerebellar atrophy Dysarthria Absent Achilles reflex Babinski sign Tremor Spasticity Nystagmus Ataxia Hyporeflexia Motor delay Respiratory insufficiency Seizures Progressive Pes cavus Cognitive impairment Unsteady gait Distal sensory impairment Dysmetria Difficulty walking Intention tremor Feeding difficulties Tongue fasciculations Progressive muscle weakness Gait ataxia Sensorimotor neuropathy Pain Abnormal facial shape Distal amyotrophy Growth delay Fasciculations Short stature Tetraplegia Polyneuropathy Optic atrophy Dysphagia Myoclonus

Rare Symptoms - Less than 30% cases


Pontocerebellar atrophy Paraplegia Atrophy/Degeneration affecting the brainstem Sensory impairment Abnormality of the foot Abnormality of the cerebral white matter Spastic paraplegia Cerebral cortical atrophy Decreased nerve conduction velocity Microcephaly Impaired vibratory sensation Progressive visual loss Clonus Abnormal cerebellum morphology Visual loss Absent speech Cerebellar hypoplasia Pneumonia Respiratory failure Hearing impairment Severe global developmental delay Gliosis Congenital contracture Pica Spinal muscular atrophy Ophthalmoparesis External ophthalmoplegia Ophthalmoplegia Neonatal hypotonia Intellectual disability, mild Ptosis Scoliosis Congenital onset Decreased number of peripheral myelinated nerve fibers Drooling Dilated fourth ventricle Respiratory insufficiency due to muscle weakness Dysmetric saccades Generalized muscle weakness Oculomotor apraxia Gaze-evoked nystagmus Irritability Feeding difficulties in infancy Autosomal dominant inheritance X-linked recessive inheritance Respiratory distress Strabismus Failure to thrive Joint laxity Sensory neuropathy Dystonia Distal muscle weakness High palate Global brain atrophy Abnormality of temperature regulation Brisk reflexes Hypoplasia of the brainstem Axonal loss Restless legs Low back pain Weak cry Limb ataxia Hypometric saccades Hypoplasia of the pons Abnormal lower motor neuron morphology Spinocerebellar tract degeneration Cerebellar cyst Spastic dysarthria Pes valgus Degeneration of anterior horn cells Tongue atrophy Olivopontocerebellar atrophy Atrophy of the spinal cord Torsion dystonia Brain atrophy Poor head control Supranuclear ophthalmoplegia Muscle mounding Increased urinary hypoxanthine Spinal cord posterior columns myelin loss Abnormal electrooculogram Cerebral atrophy Delirium Palatal myoclonus Muscular hypotonia of the trunk Ranula Hip dislocation Genetic anticipation Talipes Impaired horizontal smooth pursuit Downbeat nystagmus Retinal dystrophy Chronic pain Abnormal anterior horn cell morphology Apraxia Progressive microcephaly Cone/cone-rod dystrophy Adducted thumb Retrocerebellar cyst Polyhydramnios Talipes valgus Abnormality of the eye Dementia Akinesia Diabetes mellitus Diplopia Hallucinations Truncal ataxia Proptosis Rigidity Abnormal pyramidal sign Anxiety Pancreatic fibrosis Abnormality of movement Depressivity Clumsiness Leukemia Abnormality of eye movement Parkinsonism Postural instability Neuronal loss in central nervous system Muscle cramps Bradykinesia Progressive cerebellar ataxia Confusion Neurodegeneration Amyotrophic lateral sclerosis Back pain Anteverted nares Bulbous nose Hypertonia Saccadic smooth pursuit Midface retrusion Abnormality of extrapyramidal motor function Myokymia Vocal cord paralysis Progressive external ophthalmoplegia Acidosis Delusions Pallor Lactic acidosis Tapered finger Cone dysfunction syndrome Narrow forehead Peripheral demyelination Exotropia Trophic changes related to pain Narrow palate Tented upper lip vermilion Steppage gait Urinary bladder sphincter dysfunction Inverted nipples Abnormal autonomic nervous system physiology Vestibular dysfunction Parietal cortical atrophy Bifid uvula Low frustration tolerance Triangular face Small posterior fossa Enlarged interhemispheric fissure Downslanted palpebral fissures Long philtrum Abnormality of cardiovascular system morphology Upslanted palpebral fissure Constipation Abnormal heart morphology Thin upper lip vermilion Abnormal cardiac septum morphology Smooth philtrum Wide nose Vertical nystagmus Poor speech Broad-based gait Failure to thrive in infancy Onion bulb formation Syringomyelia Chronic constipation Demyelinating peripheral neuropathy Cataract Gait disturbance Kyphoscoliosis Limb muscle weakness Abnormality of ocular smooth pursuit Orofacial dyskinesia Foot dorsiflexor weakness Increased CSF lactate Paralysis Infantile onset Developmental regression Increased serum lactate Involuntary movements Severe muscular hypotonia Sensory axonal neuropathy Increased variability in muscle fiber diameter Hypokinesia Ragged-red muscle fibers Central hypotonia Increased connective tissue Slow saccadic eye movements Moderate global developmental delay Abnormality of the basal ganglia Increased serum pyruvate Abnormal corpus striatum morphology Chorea Cerebellar vermis hypoplasia Frequent falls Hypergonadotropic hypogonadism Reduced tendon reflexes Dysdiadochokinesis Mask-like facies Hyperactive deep tendon reflexes Spastic gait Postural tremor Arnold-Chiari type I malformation Facial diplegia Gowers sign Bilateral ptosis Difficulty climbing stairs Generalized amyotrophy Long fingers Centrally nucleated skeletal muscle fibers Hip contracture Onset Difficulty running Abnormal heart valve morphology Exertional dyspnea Type 1 muscle fiber predominance EMG: myopathic abnormalities Axial muscle weakness EMG: decremental response of compound muscle action potential to repetitive nerve stimulation Small finger Sensorineural hearing impairment Muscular hypotonia Elevated serum creatine phosphokinase Immunodeficiency Recurrent infections Aggressive behavior Death in infancy Recurrent upper respiratory tract infections Gout Dysphonia Scapular winging Toe walking Impaired continence Lower limb hyperreflexia Abnormality of the periventricular white matter Loss of speech Corpus callosum atrophy Mild microcephaly Primitive reflex Pseudobulbar paralysis Urinary retention Hyperreflexia in upper limbs Pollakisuria Impaired vibration sensation at ankles Myopathy Left ventricular hypertrophy Talipes equinovarus Kyphosis Congestive heart failure Retrognathia Narrow mouth Facial palsy Proximal muscle weakness Protruding ear Dyspnea Hyperlordosis Long face Waddling gait Facial-lingual fasciculations


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