Dysarthria, and Myelodysplasia

Diseases related with Dysarthria and Myelodysplasia

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


Top matches:

Medium match FAMILIAL THROMBOCYTOSIS


Familial thrombocytosis is a type of thrombocytosis, a sustained elevation of platelet numbers, which affects the platelet/megakaryocyte lineage and may create a tendency for thrombosis and hemorrhage but does not cause myeloproliferation.

FAMILIAL THROMBOCYTOSIS Is also known as familial thrombocythemia|hereditary thrombocythemia

Related symptoms:

  • Seizures
  • Dysarthria
  • Splenomegaly
  • Headache
  • Hyperhidrosis


SOURCES: ORPHANET MENDELIAN

More info about FAMILIAL THROMBOCYTOSIS

Medium match ATAXIA-PANCYTOPENIA SYNDROME


Ataxia-pancytopenia syndrome is a rare genetic disease characterized by cerebellar ataxia, cytopenias and predisposition to bone marrow failure and myeloid leukaemia. Neurologic features variably include slowly progressive cerebellar ataxia or balance impairment with cerebellar atrophy and periventricular white matter T2 hyperintensities in brain MRI, horizontal and vertical nystagmus, dysmetria, dysarthria, pyramidal tract signs and reduced nerve conduction velocity. Hematological abnormalities are variable and may be intermittent and include cytopenias of all cell lineages, immunodeficiency, myelodysplasia and acute myeloid leukemia.

ATAXIA-PANCYTOPENIA SYNDROME Is also known as myelocerebellar disorder

Related symptoms:

  • Microcephaly
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Anemia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ATAXIA-PANCYTOPENIA SYNDROME

Low match 3-METHYLGLUTACONIC ACIDURIA TYPE 7


3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia (MEGCANN) is an autosomal recessive inborn error of metabolism characterized primarily by increased levels of 3-methylglutaconic acid (3-MGA) associated with neurologic deterioration and neutropenia. The phenotype is highly variable: most patients have infantile onset of a progressive encephalopathy with various movement abnormalities and delayed psychomotor development, although rare patients with normal neurologic development have been reported. Other common, but variable, features include cataracts, seizures, and recurrent infections (summary by Wortmann et al., 2015 and Saunders et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of 3-methylglutaconic aciduria, see MGCA1 (OMIM ).

3-METHYLGLUTACONIC ACIDURIA TYPE 7 Is also known as 3-methylglutaconic aciduria-cataract-neurologic involvement-neutropenia syndrome|mga7|mgca7|3-methylglutaconic aciduria, type vii

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 3-METHYLGLUTACONIC ACIDURIA TYPE 7

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Other less relevant matches:

Low match DEAFNESS-LYMPHEDEMA-LEUKEMIA SYNDROME


Deafness - lymphedema - leukemia is a very rare, serious syndromic genetic disorder characterized by primary lymphedema, immunodeficiency, and hematological disorders.

DEAFNESS-LYMPHEDEMA-LEUKEMIA SYNDROME Is also known as emberger syndrome

Related symptoms:

  • Hearing impairment
  • Neoplasm
  • Sensorineural hearing impairment
  • Anemia
  • Epicanthus


SOURCES: OMIM ORPHANET MENDELIAN

More info about DEAFNESS-LYMPHEDEMA-LEUKEMIA SYNDROME

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|spinocerebellar atrophy iii|spinopontine atrophy|azorean neurologic disease|nigrospinodentatal degeneration|sca3

Related symptoms:

  • Ataxia
  • Nystagmus
  • Pain
  • Spasticity
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about MACHADO-JOSEPH DISEASE; MJD

Low match PGM3-CDG


PGM3-CDG is a rare congenital disorder of glycosylation caused by mutations in the PGM3 gene and characterized by neonatal to childhood onset of recurrent bacterial and viral infections, inflammatory skin diseases, atopic dermatitis and atopic diatheses, and marked serum IgE elevation. Early neurologic impairment is evident including developmental delay, intellectual disability, ataxia, dysarthria, sensorineural hearing loss, myoclonus and seizures.

PGM3-CDG Is also known as cid due to pgm3 deficiency|immunodeficiency with hyper ige and cognitive impairment|pgm3-related congenital disorder of glycosylation|combined immunodeficiency due to pgm3 deficiency|immunodeficiency-vasculitis-myoclonus syndrome|ivms

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PGM3-CDG

Low match ATTRV30M AMYLOIDOSIS


Familial amyloid polyneuropathy (FAP) or transthyretin (TTR) amyloid polyneuropathy is a progressive sensorimotor and autonomic neuropathy of adulthood onset. Weight loss and cardiac involvement are frequent; ocular or renal complications may also occur.

ATTRV30M AMYLOIDOSIS Is also known as familial amyloid polyneuropathy type i|ttr amyloid neuropathy|attrv30m-related amyloidosis|hereditary amyloidosis, transthyretin-related|transthyretin amyloid polyneuropathy|familial amyloid polyneuropathy, portuguese-swedish-japanese type|fap|amyloid pol

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about ATTRV30M AMYLOIDOSIS

Low match NEMALINE MYOPATHY 2; NEM2


Nemaline myopathy-2 is an autosomal recessive skeletal muscle disorder with a wide range of severity. The most common clinical presentation is early-onset (in infancy or childhood) muscle weakness predominantly affecting proximal limb muscles. Muscle biopsy shows accumulation of Z-disc and thin filament proteins into aggregates named 'nemaline bodies' or 'nemaline rods,' usually accompanied by disorganization of the muscle Z discs. The clinical and histologic spectrum of entities caused by variants in the NEB gene is a continuum, ranging in severity from the severe form with perinatal onset and fetal death to milder forms with later onset. The distribution of weakness can vary from generalized muscle weakness, more pronounced in proximal limb muscles, to distal-only involvement, although neck flexor weakness appears to be rather consistent. Histologic patterns range from a severe usually nondystrophic disturbance of the myofibrillar pattern to an almost normal pattern, with or without nemaline bodies, sometimes combined with cores (summary by Lehtokari et al., 2014).For a discussion of genetic heterogeneity of nemaline myopathy, see NEM3 (OMIM ).Mutations in the NEB gene are the most common cause of nemaline myopathy (Lehtokari et al., 2006).

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism
  • Muscle weakness
  • Cleft palate


SOURCES: OMIM MESH MENDELIAN

More info about NEMALINE MYOPATHY 2; NEM2

Low match ATAXIA-TELANGIECTASIA


Ataxia-telangiectasia is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterised by neurological signs, telangiectasias, increased susceptibility to infections and a higher risk of cancer.

ATAXIA-TELANGIECTASIA Is also known as at1|louis-bar syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about ATAXIA-TELANGIECTASIA

Low match WEAVER SYNDROME; WVS


Weaver syndrome comprises pre- and postnatal overgrowth, accelerated osseous maturation, characteristic craniofacial appearance, and developmental delay. Most cases are sporadic, although autosomal dominant inheritance has been reported. Although there is phenotypic overlap between Weaver syndrome and Sotos syndrome (OMIM ), distinguishing features of Weaver syndrome include broad forehead and face, ocular hypertelorism, prominent wide philtrum, micrognathia, deep horizontal chin groove, and deep-set nails. In addition, carpal bone development is advanced over the rest of the hand in Weaver syndrome, whereas in Sotos syndrome carpal bone development is at or behind that of the rest of the hand (summary by Basel-Vanagaite, 2010).The 'Weaver-like' syndrome reported by Stoll et al. (1985) in a mother and son may be a separate entity.Sotos syndrome (OMIM ), which shows considerable phenotypic overlap with Weaver syndrome, is caused by mutation in the NSD1 gene (OMIM ) on chromosome 5q35.

WEAVER SYNDROME; WVS Is also known as weaver-smith syndrome|wss

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about WEAVER SYNDROME; WVS

Top 5 symptoms//phenotypes associated to Dysarthria and Myelodysplasia

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Leukemia Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Cerebellar atrophy Uncommon - Between 30% and 50% cases
Flexion contracture Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Dysarthria and Myelodysplasia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Scoliosis Spasticity Myeloid leukemia Recurrent respiratory infections Generalized hypotonia Anemia Nystagmus Myoclonus Acute myeloid leukemia Recurrent infections Gliosis Intellectual disability Leukopenia Global developmental delay Pancytopenia Progressive cerebellar ataxia Dysphagia Abnormal facial shape Unsteady gait Dystonia Neonatal hypotonia Neuronal loss in central nervous system Hearing impairment Neoplasm Sensorineural hearing impairment Immunodeficiency Pain Tremor Polyneuropathy Hyporeflexia Lymphoma Muscle weakness Neutropenia Peripheral neuropathy Weight loss Neurological speech impairment Gait ataxia Microcephaly Splenomegaly

Rare Symptoms - Less than 30% cases


Strabismus Respiratory tract infection Anxiety Abnormality of the eye Slurred speech Abnormality of eye movement Distal amyotrophy Abnormality of extrapyramidal motor function Choreoathetosis Dementia High palate Abnormal cerebellum morphology Cognitive impairment Abnormality of movement Failure to thrive Abnormal pyramidal sign Limb ataxia Diabetes mellitus Fever Epicanthus Hemolytic anemia Severe combined immunodeficiency Vasculitis Lymphopenia Lymphedema Bronchiectasis Migraine Headache Vertigo Hallucinations Hyperhidrosis Visual impairment Skeletal muscle atrophy Areflexia Paresthesia Edema Respiratory insufficiency Facial palsy Rigidity Short stature Respiratory failure Downslanted palpebral fissures Absent Achilles reflex Hypertelorism Acute leukemia Spinocerebellar tract degeneration Cryptorchidism Thrombocytopenia Distal muscle weakness Talipes equinovarus Increased sensitivity to ionizing radiation Babinski sign Bone marrow hypocellularity Acute lymphoblastic leukemia Telangiectasia Decreased antibody level in blood Abnormality of the nervous system Postural instability Long philtrum Talipes Combined immunodeficiency Akinesia Spinal muscular atrophy Gait disturbance Truncal ataxia Cardiomyopathy Decreased number of peripheral myelinated nerve fibers Abnormal autonomic nervous system physiology Feeding difficulties Chronic myelogenous leukemia Back pain Aplasia/Hypoplasia of the skin Oculomotor apraxia Prematurely aged appearance Recurrent pneumonia Abnormal vertebral morphology Abnormality of the hair Resting tremor Hepatocellular carcinoma Glucose intolerance IgA deficiency Reduced tendon reflexes Athetosis Multiple cafe-au-lait spots Cerebral palsy Telangiectasia of the skin Polycystic ovaries Abnormality of the immune system Premature graying of hair Hypopigmentation of hair Hodgkin lymphoma Breast carcinoma Calcaneovalgus deformity Sinusitis Foot dorsiflexor weakness Bulbar palsy Pericardial effusion Mildly elevated creatine phosphokinase Multiple joint contractures Myopathic facies Rocker bottom foot Congenital contracture Pterygium Adducted thumb EMG: myopathic abnormalities Respiratory insufficiency due to muscle weakness Hydrops fetalis Cystic hygroma Large fontanelles Frequent falls Decreased fetal movement Waddling gait Generalized muscle weakness Inability to walk Falls Limb muscle weakness Arthrogryposis multiplex congenita Muscular dystrophy Hyperlordosis Spinal rigidity EMG: neuropathic changes Cafe-au-lait spot Chromosome breakage Intention tremor Type II diabetes mellitus Apraxia Hepatitis Chorea Delayed puberty Abnormality of the liver Carcinoma Elevated hepatic transaminase Difficulty walking Pneumonia Late-onset distal muscle weakness Fetal akinesia sequence Mitochondrial depletion Transient myeloproliferative syndrome Severe hydrops fetalis Calf muscle pseudohypertrophy Multiple pterygia Hand clenching Neck flexor weakness Abnormality of the rib cage Slender build Type 1 muscle fiber predominance Nemaline bodies Recurrent lower respiratory tract infections Female hypogonadism Recurrent bronchitis Hoarse voice Flat occiput Radial deviation of finger Deep-set nails Large hands Cutis laxa Accelerated skeletal maturation Coxa valga Pointed chin Sacrococcygeal teratoma Short ribs Joint contracture of the hand Metatarsus adductus Tall stature Broad thumb Pachygyria Hypertrichosis Fine hair Lumbar kyphosis Flared femoral metaphysis Limited knee extension Overgrowth Amenorrhea Horizontal eyebrow Vertebral wedging Abnormally low-pitched voice Prolactin excess Thoracolumbar kyphosis Dimple chin Broad philtrum Dilation of lateral ventricles Broad face Large earlobe Hydrocele testis Hypoplastic iliac wing Diastasis recti Down-sloping shoulders Inverted nipples Overlapping toe Secondary amenorrhea Absent septum pellucidum Limited elbow extension Thin nail Bilateral talipes equinovarus Large for gestational age Teratoma Galactorrhea Prominent fingertip pads Short fourth metatarsal Nail dysplasia Round face Renal neoplasm Decreased proportion of CD4-positive T cells Interosseus muscle atrophy Decreased/absent ankle reflexes Immunoglobulin IgG2 deficiency Progressive spinal muscular atrophy Non-Hodgkin lymphoma Flared humeral metaphysis Mucosal telangiectasiae Aplasia/Hypoplasia of the thymus Poor fine motor coordination Chronic hepatitis Elevated alpha-fetoprotein Defective B cell differentiation Abnormal spermatogenesis Neoplasm of the breast Conjunctival telangiectasia Abnormality of chromosome stability Cellular immunodeficiency Chronic lymphatic leukemia Hypoplasia of the thymus Lymphoproliferative disorder Abnormality of the testis B-cell lymphoma IgE deficiency Proximal muscle weakness Platyspondyly Pes cavus Broad forehead Sparse hair Abnormality of the pinna Camptodactyly Joint laxity Umbilical hernia Retrognathia Macrotia Mandibular prognathia Prominent forehead Delayed skeletal maturation Micrognathia Inguinal hernia Clinodactyly Hernia Kyphosis Behavioral abnormality Hypertonia Macrocephaly Depressed nasal bridge Delayed speech and language development Muscular hypotonia Apnea Congestive heart failure Polyhydramnios Lymphadenopathy Chronic otitis media Intracranial hemorrhage Hypotelorism Webbed neck Tapered finger Hematuria Bruising susceptibility Cirrhosis Nausea and vomiting Prolonged bleeding time Scarring Pallor Visual loss Syndactyly Fatigue Hepatomegaly Congenital neutropenia 3-Methylglutaconic aciduria Dysgraphia Leukocytosis Cellulitis Dyslexia Proptosis Fasciculations Diplopia Bradykinesia Parkinsonism Muscle cramps Neurodegeneration Sensory neuropathy Confusion Ophthalmoplegia Depressivity Hypercoagulability Optic atrophy Ptosis Abnormal neutrophil count Macronodular cirrhosis Erysipelas Granulocytopenia Myeloproliferative disorder Abnormality of the optic nerve Verrucae Upper motor neuron dysfunction Progressive encephalopathy Ophthalmoparesis Peripheral arterial stenosis Incoordination Clonus Distal sensory impairment Dysmetria Abnormality of the cerebral white matter Hyperreflexia Arterial thrombosis Cerebral ischemia Transient ischemic attack Aplasia/Hypoplasia of the cerebellum Thrombocytosis Visual field defect Venous thrombosis Spontaneous abortion Pulmonary arterial hypertension Syncope Chest pain Abnormal bleeding Pruritus Decreased nerve conduction velocity Ankle clonus Opisthotonus Cerebral atrophy Progressive neurologic deterioration Aciduria Increased serum lactate Brain atrophy Attention deficit hyperactivity disorder Developmental regression Hypothyroidism Hyperactivity Encephalopathy Cataract Impaired vibration sensation in the lower limbs Growth delay Abnormal macrophage morphology Acute myelomonocytic leukemia Hypoplastic anemia Abnormal platelet function Vertical nystagmus Abnormality of neutrophils Gait imbalance Hyperactive deep tendon reflexes External ophthalmoplegia Impaired vibratory sensation Micropenis Hemiparesis Malnutrition Impotence Cerebral hemorrhage Rheumatoid arthritis Cachexia Atrioventricular block Spastic paraparesis Paraparesis Cardiomegaly Axonal degeneration Bilateral sensorineural hearing impairment Peripheral demyelination Hypotension Urinary incontinence Coma Nephropathy Peripheral axonal neuropathy Paraplegia Malabsorption Aphasia Orthostatic hypotension Constipation Psychomotor deterioration Hypospadias Myopathy Motor delay Low-set ears Cleft palate Amyloid deposition in the vitreous humor Cardiac amyloidosis Vitreous floaters Orthostatic hypotension due to autonomic dysfunction Urinary retention Amyloidosis Sensory ataxia Abnormal renal physiology Myelopathy Constrictive median neuropathy Stroke-like episode Multiple myeloma Restrictive cardiomyopathy Increased CSF protein Syringomyelia Arthritis Arrhythmia Amyotrophic lateral sclerosis Dilated fourth ventricle Impaired horizontal smooth pursuit Downbeat nystagmus Supranuclear ophthalmoplegia Delirium Dysmetric saccades Restless legs Hypometric saccades Torsion dystonia Chronic pain Low back pain Facial-lingual fasciculations Myokymia Olivopontocerebellar atrophy Tongue fasciculations Spastic dysarthria Delusions Urinary bladder sphincter dysfunction Progressive external ophthalmoplegia Atrophy/Degeneration affecting the brainstem Gaze-evoked nystagmus Palatal myoclonus Abnormal electrooculogram Renal insufficiency Glomerulonephritis Diarrhea Vomiting Hydrocephalus Cortical myoclonus Autoimmune neutropenia Vasculitis in the skin Membranoproliferative glomerulonephritis Allergic rhinitis Atopic dermatitis Recurrent skin infections Brachydactyly Narrow palpebral fissure Inflammatory abnormality of the skin Eczema Sensory impairment Asthma Erythema Conductive hearing impairment Gastroesophageal reflux Abnormality of the skeletal system Dysharmonic bone age



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