Delayed speech and language development, and Distal amyotrophy

Diseases related with Delayed speech and language development and Distal amyotrophy

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


Top matches:

Medium match AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2K

Autosomal dominant Charcot-Marie-Tooth disease, type 2K (CMT2K) is an axonal CMT peripheral sensorimotor polyneuropathy.

AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2K Is also known as cmt2k

Related symptoms:

  • Motor delay
  • Skeletal muscle atrophy
  • Gait disturbance
  • Arrhythmia
  • Proximal muscle weakness


SOURCES: ORPHANET SCTID

More info about AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2K

Low 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

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

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Other less relevant matches:

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 HAREL-YOON SYNDROME; HAYOS

Harel-Yoon syndrome is a syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy. Other more variable features such as optic atrophy may also occur. Laboratory studies in some patients show evidence of mitochondrial dysfunction (summary by Harel et al., 2016).

HAREL-YOON SYNDROME; HAYOS Is also known as ;harel-yoon syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay


SOURCES: ORPHANET OMIM MONDO UMLS

More info about HAREL-YOON SYNDROME; HAYOS

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

Low match SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE; SPG20

gene (13q13.1), which encodes the protein spartin.

SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE; SPG20 Is also known as troyer syndrome, spastic paraparesis, childhood-onset, with distal muscle wasting, spastic paraplegia, autosomal recessive, troyer type;childhood-onset spastic paraparesis-distal muscle wasting syndrome; spg20; troyer syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: DOID ORPHANET MESH GARD OMIM MONDO SCTID UMLS

More info about SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE; SPG20

Low match MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE; MRXSCJ

) gene encoding a JmjC-domain protein with histone demethylase activity.

MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE; MRXSCJ Is also known as mental retardation, x-linked, syndromic, jarid1c-related;mrxsj;

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: SCTID UMLS DOID ORPHANET MONDO OMIM MESH

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE; MRXSCJ

Low match WIEACKER-WOLFF SYNDROME; WRWF

Wieacker-Wolff syndrome is a severe X-linked recessive neurodevelopmental disorder affecting the central and peripheral nervous systems. It is characterized by onset of muscle weakness in utero (fetal akinesia). Affected boys are born with severe contractures, known as arthrogryposis, and have delayed motor development, facial and bulbar weakness, characteristic dysmorphic facial features, and skeletal abnormalities, such as hip dislocation, scoliosis, and pes equinovarus. Those that survive infancy show mental retardation. Carrier females may have mild features of the disorder (summary by Hirata et al., 2013).

WIEACKER-WOLFF SYNDROME; WRWF Is also known as wieacker syndrome, contractures of feet, muscle atrophy, and oculomotor apraxia, apraxia, oculomotor, with congenital contractures and muscle atrophy, miles-carpenter x-linked mental retardation syndrome;mcs, mental retardation, x-linked, syndromic 4;mrxs4, mental retardation, x-linked, with congenital contractures and low fingertip arches;foot contractures-muscle atrophy-oculomotor apraxia syndrome; wieacker-wolff syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM GARD MESH MONDO

More info about WIEACKER-WOLFF SYNDROME; WRWF

Low match MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE; MRXSC

X-linked intellectual disability, Cabezas type is characterised by intellectual deficit, muscle wasting, short stature, a prominent lower lip, small testes, kyphosis and joint hyperextensibility. An abnormal gait, tremor, decreased fine motor coordination and impaired speech are also present. The syndrome has been described in six boys from three generations of the same family. Transmission is X-linked and the causative gene has been localised to the q24-q25 region of the X chromosome.

MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE; MRXSC Is also known as cabezas syndrome, mental retardation, x-linked, syndromic 15;mrxs15, mental retardation, x-linked, with short stature, hypogonadism, and abnormal gait, mental retardation, x-linked, with short stature;mrss;cabezas syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: GARD SCTID DOID MONDO ORPHANET UMLS OMIM

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE; MRXSC

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

Symptoms // Phenotype % cases
Skeletal muscle atrophy Common - Between 50% and 80% cases
Spasticity Common - Between 50% and 80% cases
Hyperreflexia Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability

Common Symptoms - More than 50% cases


Cerebellar atrophy

Uncommon Symptoms - Between 30% and 50% cases


Motor delay Tremor Babinski sign Dysphagia Microcephaly Flexion contracture Peripheral neuropathy Scoliosis Autosomal recessive inheritance Visual impairment Dysmetria Gliosis Spastic paraplegia Difficulty walking Clonus Abnormal facial shape Gait ataxia Abnormal cerebellum morphology Nystagmus Micrognathia Short stature Absent speech Pes cavus Intention tremor Abnormality of the foot Optic atrophy Ataxia Cognitive impairment Muscle weakness Paraplegia Distal muscle weakness X-linked recessive inheritance Growth delay Gait disturbance Strabismus Brachydactyly Short foot Decreased testicular size Peripheral axonal neuropathy Dysarthria Upslanted palpebral fissure Mandibular prognathia Areflexia High palate Pica Respiratory insufficiency Feeding difficulties Behavioral abnormality Dystonia

Rare Symptoms - Less than 30% cases


Anteverted nares Fasciculations Smooth philtrum Camptodactyly of finger Aggressive behavior Intellectual disability, moderate Micropenis Spastic dysarthria Tongue fasciculations Cryptorchidism Oculomotor apraxia Spinal muscular atrophy Macrocephaly Intellectual disability, severe Congenital contracture Talipes equinovarus Short palm Atrophy/Degeneration affecting the brainstem Hypertonia Abnormality of eye movement Short neck Kyphosis Clinodactyly of the 5th finger Anxiety Distal lower limb amyotrophy Delayed puberty Pes planus Deeply set eye Abnormality of movement High forehead Restlessness Abnormality of the skeletal system Neurological speech impairment Myopia Respiratory distress Myopathy Autosomal dominant inheritance Pontocerebellar atrophy Absent Achilles reflex Large hands Narrow palate Exotropia Hallucinations Polyneuropathy Tapered finger Bulbous nose Impaired vibratory sensation Myoclonus Apraxia Hip dislocation Abnormality of extrapyramidal motor function Postural instability Pectus excavatum Hyperactivity Rigidity Clinodactyly Abnormal pyramidal sign Kyphoscoliosis Peripheral demyelination Camptodactyly Parkinsonism Neuronal loss in central nervous system Intellectual disability, mild Amyotrophic lateral sclerosis Joint hypermobility Emotional lability Sensorimotor neuropathy Bradykinesia Spastic paraparesis Spastic gait Prominent nose Progressive visual loss Memory impairment Neurodegeneration Shuffling gait Visual loss Depressivity Severe global developmental delay Ptosis Drooling Hyporeflexia Muscular hypotonia of the trunk Respiratory failure Cerebellar hypoplasia Congenital onset Abnormal lower motor neuron morphology Cerebral atrophy Cerebellar vermis atrophy Distal sensory impairment Low-set ears Dementia Downslanted palpebral fissures Progressive Epicanthus Hypertelorism Premature loss of teeth Ankle clonus Upper limb muscle weakness Progressive spastic paraplegia Diastema Facial hypotonia Multiple cafe-au-lait spots Scleroderma Furrowed tongue Lower limb hypertonia Panic attack Speech apraxia Dysuria Prominent nasal bridge Morphea Suicidal ideation Hyperextensible hand joints Knee clonus Nevus Abnormality of brain morphology Abnormal hand morphology Macrotia Autism Thin upper lip vermilion Protruding ear Hypermetropia Lower limb hyperreflexia Abnormality of the nares Short distal phalanx of finger High, narrow palate Overbite Hypoplasia of the maxilla Falls Upper limb spasticity Poor speech Hyperplasia of midface Abnormality of the thumb Decreased body weight Intellectual disability, progressive Low frustration tolerance Spinal deformities Alopecia areata Macroglossia Acanthosis nigricans Gynecomastia Short thumb Thick lower lip vermilion Mood swings Moderately short stature Hypoplasia of penis Small hand Cachexia Polymicrogyria Synophrys Toe syndactyly Joint hyperflexibility Short philtrum Blepharophimosis Wide mouth Sandal gap Narrow palpebral fissure Joint laxity Striae distensae Small earlobe Abnormality of earlobe Abdominal obesity Panhypopituitarism Abnormal hair pattern Down-sloping shoulders Scaphocephaly Hypopituitarism Relative macrocephaly Biparietal narrowing Cortical gyral simplification Cortical dysplasia Truncal obesity Abnormality of the musculature Open bite Broad-based gait Cubitus valgus Abnormality of the pinna EEG abnormality Small forehead Arthrogryposis multiplex congenita Cerebral palsy Elbow flexion contracture Joint contracture of the hand Decreased fetal movement Delayed myelination Limitation of joint mobility Narrow chest Apnea Proximal placement of thumb Hyperlordosis X-linked inheritance Facial palsy Hyperkeratosis Retrognathia Long philtrum Talipes calcaneovarus Neonatal respiratory distress High anterior hairline Hyperhidrosis Coma Hypogonadism Coarse facial features Oxycephaly Immunodeficiency Obesity Hypospadias Inguinal hernia Hypoplasia of the corpus callosum Broad alveolar ridges Ventriculomegaly Tics Spastic diplegia Intrauterine growth retardation Depressed nasal bridge Congenital foot contractures Palmar hyperkeratosis U-Shaped upper lip vermilion Slurred speech Clumsiness Hammertoe Pes valgus Talipes valgus Abnormal anterior horn cell morphology Retrocerebellar cyst Atrophy of the spinal cord Tongue atrophy Degeneration of anterior horn cells Cerebellar cyst Failure to thrive Hypoplasia of the pons Weak cry Axonal loss Brisk reflexes Global brain atrophy Hypoplasia of the brainstem Hearing impairment Midface retrusion Adducted thumb Trophic changes related to pain Frontal bossing Cataract Cone dysfunction syndrome Inverted nipples Steppage gait Tented upper lip vermilion Narrow forehead Polyhydramnios Sensory impairment Lactic acidosis Abnormality of the cerebral white matter Pallor Irritability Acidosis Poor head control Cone/cone-rod dystrophy Cardiomyopathy Urinary incontinence Bowel incontinence Impulsivity Dysdiadochokinesis Scapular winging Frequent falls Optic disc pallor Mental deterioration Progressive spasticity Cerebral cortical atrophy Elevated serum creatine phosphokinase Hand muscle atrophy Decreased nerve conduction velocity Proximal muscle weakness Arrhythmia Hyperactive deep tendon reflexes Motor polyneuropathy Progressive muscle weakness Abnormality of the substantia nigra Progressive microcephaly Brain atrophy Retinal dystrophy Talipes Ranula Pneumonia Abnormal globus pallidus morphology Generalized dystonia Abnormal saccadic eye movements Craniofacial dystonia Oromandibular dystonia Hypomimic face Motor axonal neuropathy Lewy bodies Hand tremor Infantile onset Short nose Abnormality of the hand Hypometric saccades Chronic pain Genetic anticipation Restless legs Abnormality of temperature regulation Low back pain Dilated fourth ventricle Spinocerebellar tract degeneration Impaired horizontal smooth pursuit Dysmetric saccades Torsion dystonia Olivopontocerebellar atrophy Saccadic smooth pursuit Myokymia Vocal cord paralysis Downbeat nystagmus Supranuclear ophthalmoplegia Delusions Sleep disturbance Hoarse voice Childhood onset Overgrowth Lower limb spasticity Psychosis Specific learning disability Lower limb muscle weakness Palatal myoclonus Genu valgum Hydronephrosis Constipation Facial-lingual fasciculations Abnormal electrooculogram Delirium Progressive external ophthalmoplegia Gaze-evoked nystagmus Delayed skeletal maturation Hip dysplasia Diabetes mellitus Pain Abnormality of mitochondrial metabolism Optic nerve hypoplasia Absence seizures Inability to walk Esotropia Abnormality of the eye Increased serum lactate Aciduria Long face Congenital cataract Pectus carinatum Hypertrophic cardiomyopathy Proptosis Ophthalmoplegia Urinary bladder sphincter dysfunction External ophthalmoplegia Abnormal autonomic nervous system physiology Vestibular dysfunction Back pain Decreased number of peripheral myelinated nerve fibers Akinesia Ophthalmoparesis Diplopia Unsteady gait Truncal ataxia Limb ataxia Confusion Progressive cerebellar ataxia Muscle cramps Sensory neuropathy Leukemia Abnormality of toe



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