Dysarthria, and Macroglossia

Diseases related with Dysarthria and Macroglossia

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

Top matches:

Sandhoff disease is a progressive neurodegenerative disorder characterized by an accumulation of GM2 gangliosides, particularly in neurons, and is clinically indistinguishable from Tay-Sachs disease (OMIM ).

SANDHOFF DISEASE, INFANTILE FORM Is also known as infantile gm2 gangliosidosis 0 variant|hexosaminidases a and b deficiency|hexosaminidases a and b deficiency, infantile form|gm2-gangliosidosis, type ii

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Ataxia
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about SANDHOFF DISEASE, INFANTILE FORM

Alpha-mannosidosis is an autosomal recessive lysosomal storage disease characterized by mental retardation, coarse facial features, skeletal abnormalities, hearing impairment, neurologic motor problems, and immune deficiency. Expression of the disease varies considerably, and there is a wide spectrum of clinical findings and severity. Affected children are often normal at birth and during early development. They present in early childhood with delayed psychomotor development, delayed speech, and hearing loss. Additional features include large head with prominent forehead, rounded eyebrows, flattened nasal bridge, macroglossia, widely spaced teeth, dysostosis multiplex, and motor impairment (summary by Malm and Nilssen, 2008). Classification SystemsTwo classification systems have been used to describe the clinical presentation of alpha-mannosidosis. The earlier system delineated a more severe 'type I,' which shows infantile onset, rapid mental deterioration, hypotonia, splenomegaly, severe dysostosis multiplex, and severe recurrent infections, often resulting in death by age 8 years. Individuals with the less severe 'type II' show normal early development with later childhood development of mental retardation, hearing loss, coarse facies, neurologic deterioration, and survival well into adulthood (summary by Desnick et al., 1976 and Gotoda et al., 1998). A later classification system delineated 3 clinical types. Type 1 is the mildest form, with onset after age 10 years, without skeletal abnormalities and very slow progression. Type 2 is a moderate form, with onset before age 10 years, presence of skeletal abnormalities, and slow progression with development of ataxia by age 20 to 30 years. Type 3 is the severe form, with onset in early infancy, skeletal abnormalities, and obvious progression leading to early death from primary central nervous system involvement or myopathy. Most patients belong to clinical type 2 (summary by Malm and Nilssen, 2008). Despite the clinical heterogeneity of the disorder, there are no apparent genotype/phenotype correlations (Berg et al., 1999; Riise Stensland et al., 2012).

MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA Is also known as alpha-mannosidosis|lysosomal alpha-d-mannosidase deficiency|alpha-mannosidase b deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA

Other less relevant matches:

Medium match COSTELLO SYNDROME

Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors.

COSTELLO SYNDROME Is also known as fcs syndrome|faciocutaneoskeletal syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about COSTELLO SYNDROME

Medium match WILLIAMS SYNDROME

Williams syndrome is a rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity)

WILLIAMS SYNDROME Is also known as deletion 7q11.23|williams syndrome|williams-beuren syndrome|chromosome 7q11.23 deletion syndrome, 1.5- to 1.8-mb|wms|monosomy 7q11.23|ws

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about WILLIAMS SYNDROME

Autosomal dominant limb-girdle muscular dystrophy type 1F (LGMD1F) is a subtype of autosomal dominant limb-girdle muscular dystrophy ,with a variable age of onset, characterized by progressive, proximal weakness and wasting of the shoulder and pelvic musculature (with the pelvic girdle, and especially the ileopsoas muscle, being more affected) and frequent association of calf hypertrophy, dysphagia, arachnodactyly with or without finger contractures and/or distal and axial muscle involvement. Additional features include an abnormal gait, exercise intolerance, myalgia, fatigue and respiratory insufficiency. Cardiac conduction defects are typically not observed.

AUTOSOMAL DOMINANT LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1F Is also known as lgmd1f|muscular dystrophy, limb-girdle, type 1f

Related symptoms:

  • Muscle weakness
  • Flexion contracture
  • Dysarthria
  • Skeletal muscle atrophy
  • Respiratory insufficiency


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about AUTOSOMAL DOMINANT LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1F

Episodic ataxia type 1 (EA1) is a frequent form of Hereditary episodic ataxia (EA; see this term) characterized by brief episodes of ataxia, neuromyotonia, and continuous interictal myokymia.

EPISODIC ATAXIA TYPE 1 Is also known as episodic ataxia with myokymia

Related symptoms:

  • Scoliosis
  • Delayed speech and language development
  • Motor delay
  • Dysarthria
  • Respiratory distress


SOURCES: ORPHANET MENDELIAN

More info about EPISODIC ATAXIA TYPE 1

Autosomal dominant limb-girdle muscular dystrophy type 1D (LGMD1D) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult-onset of slowly progressive, proximal pelvic girdle weakness, with none, or only minimal, shoulder girdle involvement, and absence of cardiac and respiratory symptoms. Mild to moderate elevated creatine kinase serum levels and gait abnormalities are frequently observed.

AUTOSOMAL DOMINANT LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1D Is also known as lgmd1d|lgmd1e|muscular dystrophy, limb-girdle, type 1d, formerly|muscular dystrophy, limb-girdle, type 1e|lgmd1d, formerly

Related symptoms:

  • Muscle weakness
  • Flexion contracture
  • Dysarthria
  • Dysphagia
  • Myopathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1D

X-linked Charcot-Marie-Tooth disease type 5 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infancy- to childhood-onset of: 1) progressive distal muscle weakness and atrophy (first appearing and more prominent in the lower extremities than the upper) which usually manifests with foot drop and gait disturbance, 2) bilateral, profound, prelingual sensorineural hearing loss and 3) progressive optic neuropathy. Females are asymptomatic and do not display the phenotype.

X-LINKED CHARCOT-MARIE-TOOTH DISEASE TYPE 5 Is also known as cmt5x|cmtx5|optic atrophy, polyneuropathy, and deafness|rosenberg-chutorian syndrome|charcot-marie-tooth neuropathy, x-linked recessive, 5

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED CHARCOT-MARIE-TOOTH DISEASE TYPE 5

Top 5 symptoms//phenotypes associated to Dysarthria and Macroglossia

Symptoms // Phenotype % cases
Scoliosis Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Ataxia Uncommon - Between 30% and 50% cases
Myopathy Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability Coarse facial features Generalized hypotonia Delayed speech and language development Motor delay Gait disturbance Kyphosis Pes cavus Global developmental delay Skeletal muscle atrophy Areflexia Distal muscle weakness Kyphoscoliosis Macrocephaly Cognitive impairment Calf muscle hypertrophy Growth delay Nystagmus Strabismus Sensorineural hearing impairment Muscular hypotonia Cataract Pectus excavatum Osteopenia Depressed nasal bridge Hernia Epicanthus Optic atrophy Cerebellar atrophy Delayed skeletal maturation Abnormality of the dentition Postural instability Inguinal hernia Intellectual disability, mild Myopia Tremor Seizures Hepatomegaly Elevated serum creatine phosphokinase Hyperreflexia Hyperhidrosis Flexion contracture Cerebral cortical atrophy Recurrent respiratory infections

Rare Symptoms - Less than 30% cases

Proximal muscle weakness Respiratory insufficiency Pallor Ptosis Atrial septal defect Respiratory distress Ventricular septal defect Dysphagia Hypertension Feeding difficulties Muscular dystrophy Hypertonia Full cheeks Cryptorchidism Lower limb muscle weakness Narrow palate Widely spaced teeth Chronic otitis media Heart murmur Open bite Neurodevelopmental delay Patellar dislocation Synostosis of joints Micrognathia Autophagic vacuoles Pelvic girdle muscle weakness Shoulder girdle muscle weakness Rimmed vacuoles Limb-girdle muscular dystrophy Short stature Failure to thrive Abnormal facial shape Long philtrum Short nose Abnormal dermatoglyphics Failure to thrive in infancy Redundant skin Arnold-Chiari malformation Pulmonic stenosis Infantile muscular hypotonia Joint hyperflexibility Cutis laxa Arnold-Chiari type I malformation Abnormality of the fingernails Abnormality of dental enamel Thick vermilion border Pointed chin Hoarse voice Thick lower lip vermilion Mitral valve prolapse Hypoplastic toenails Amblyopia Sleep disturbance Poor coordination Renal insufficiency Abnormal heart morphology Visual impairment Osteoporosis Progressive hearing impairment Gastroesophageal reflux Dysphonia Hypertrophic cardiomyopathy Soft skin Joint laxity Intellectual disability, moderate Low-set, posteriorly rotated ears Feeding difficulties in infancy Irritability Wide mouth Large earlobe Gingival overgrowth Absent speech Visual loss Paralysis Midface retrusion Depressivity Gait ataxia Macrotia Broad-based gait Umbilical hernia Anxiety Pectus carinatum Broad forehead Language impairment Corneal opacity Neurological speech impairment Sensory impairment Hypermetropia Abnormality of the foot Genu valgum Dysmetria Sensory neuropathy Cerebral atrophy Malar flattening Distal amyotrophy Spasticity Megalencephaly Excessive daytime somnolence Progressive neurologic deterioration Psychosis Cardiomegaly Impaired pain sensation Hypertelorism Pain Frontal bossing Neurodegeneration Progressive cerebellar ataxia Abnormality of the skeletal system Talipes equinovarus Ventriculomegaly Short neck Hydrocephalus Behavioral abnormality Skeletal muscle hypertrophy Distal sensory impairment Paraparesis Hip dysplasia Respiratory tract infection Optic disc pallor Type II diabetes mellitus Otitis media Peripheral neuropathy Babinski sign Hepatosplenomegaly Dental malocclusion Peripheral demyelination Celiac disease Ulnar deviation of the hand Nevus flammeus Posterior embryotoxon Abnormality of lipid metabolism Megalocornea Malabsorption Insomnia Restlessness Facial cleft Prematurely aged appearance High hypermetropia Vertebral segmentation defect Abnormality of the vasculature Smooth philtrum Premature graying of hair Hallux valgus Cystic renal dysplasia Loss of consciousness Polyuria Thoracic scoliosis Glucose intolerance Oral cleft Tracheoesophageal fistula Abnormality of dental morphology Peptic ulcer Pulmonary artery stenosis Peripheral pulmonary artery stenosis Decreased plasma carnitine Subvalvular aortic stenosis Periorbital fullness Gait imbalance Abnormality of refraction Cerebral ischemia Dyslexia Attention deficit hyperactivity disorder Villous atrophy Stroke Small for gestational age Enuresis Nausea and vomiting Abnormal renal morphology Bladder diverticulum Abnormality of the cerebral vasculature Abnormality of the neck Tubulointerstitial nephritis Lacrimation abnormality Right ventricular hypertrophy Chronic constipation Hypoplasia of the zygomatic bone Blue irides Vocal cord paralysis Everted lower lip vermilion Carious teeth Down-sloping shoulders Multiple renal cysts Hemiparesis Hypodontia Hypogonadotrophic hypogonadism Hypotelorism Bicuspid aortic valve Positive Romberg sign Abnormality of peripheral nerve conduction Hypoplasia of penis Abnormality of extrapyramidal motor function Spina bifida occulta Coarctation of aorta Nephrocalcinosis Hemivertebrae Hypsarrhythmia Ventricular hypertrophy Increased body weight Narrow forehead Increased bone mineral density Narrow face Renal hypoplasia Aortic valve stenosis Small nail Myocardial infarction Nephrolithiasis Recurrent urinary tract infections Involuntary movements Abnormal form of the vertebral bodies Mitral regurgitation Open mouth Sacral dimple Abnormality of the cardiovascular system Unilateral renal agenesis Chest pain Recurrent otitis media Broad nasal tip Sudden cardiac death Obsessive-compulsive behavior Nephritis Abnormality of the voice Portal hypertension Precocious puberty Radioulnar synostosis Hypercalcemia Cholelithiasis Hypercalciuria Vesicoureteral reflux Ischemic stroke Polycystic ovaries Esotropia Renal agenesis Incoordination Microdontia Abnormality of pelvic girdle bone morphology Adducted thumb Rectal prolapse Dehydration Tetralogy of Fallot Reduced bone mineral density Schizophrenia Periorbital edema Aplasia/Hypoplasia of the iris Arterial stenosis Difficulty running Muscle stiffness Diplopia Clumsiness Choreoathetosis Specific learning disability Muscle cramps Nausea Vertigo Falls Headache Late-onset distal muscle weakness Thenar muscle atrophy Increased connective tissue Centrally nucleated skeletal muscle fibers Blurred vision Polyneuropathy Spinal rigidity EMG: myopathic abnormalities Ragged-red muscle fibers Respiratory insufficiency due to muscle weakness Scapular winging Progressive visual loss Bilateral sensorineural hearing impairment Frequent falls Sensorimotor neuropathy Abnormality of metabolism/homeostasis Atrophy/Degeneration involving the corticospinal tracts Scarring Myotonia Myokymia Descending aorta hypoplasia Paresthesia Hyposegmentation of neutrophil nuclei Rod-cone dystrophy Reduced visual acuity Weakness of the intrinsic hand muscles Percussion myotonia Fatty replacement of skeletal muscle Abnormality of muscle fibers Loss of ability to walk Muscle fiber splitting Myofibrillar myopathy Bulbar signs Myositis Progressive proximal muscle weakness Spinal canal stenosis Hand clenching Bulbar palsy Difficulty climbing stairs Increased variability in muscle fiber diameter Gowers sign Foot dorsiflexor weakness Waddling gait Generalized muscle weakness Peripheral axonal neuropathy Limb muscle weakness Facial palsy Dyspnea Craniofacial disproportion Tip-toe gait Vocal cord dysfunction Functional abnormality of male internal genitalia Progressive sensorineural hearing impairment Areflexia of lower limbs Nocturia Obsessive-compulsive trait Congenital nystagmus Aortic arch aneurysm Overriding aorta Tubulointerstitial abnormality Abnormality of the ankles Vascular tortuosity Colonic diverticula Renal duplication Skeletal muscle fibrosis Abnormal endocardium morphology Thyroid hypoplasia Retinal vascular tortuosity Abnormality of the bladder Kinetic tremor Increased nuchal translucency Abnormal nerve conduction velocity Segmental peripheral demyelination/remyelination Difficulty walking Abnormal glucose tolerance Short thumb Urethral stenosis Parathyroid hyperplasia Phonophobia Abnormality of nervous system morphology Dysgraphia Joint contracture of the hand Optic neuropathy Renal artery stenosis Stellate iris Unilateral renal hypoplasia Dyssynergia Early onset of sexual maturation Overfriendliness Nystagmus-induced head nodding Thyroid hemiagenesis Bilateral vocal cord paralysis Elfin facies Mildly elevated creatine phosphokinase Medial flaring of the eyebrow Abnormality of the diencephalon Abnormal carotid artery morphology Paroxysmal bursts of laughter Myxomatous mitral valve degeneration Calcification of the aorta Coronary artery stenosis Impaired visuospatial constructive cognition Supravalvular aortic stenosis Flat cornea Abnormal social behavior Macular atrophy Onion bulb formation Renovascular hypertension Abnormality of the gastric mucosa Infantile hypercalcemia Food intolerance Pelvic kidney Hyperacusis Retinal arteriolar tortuosity Abnormal cardiac septum morphology Fetal distress Blepharophimosis Abnormality of the ilium Edema Cardiomyopathy Anteverted nares Downslanted palpebral fissures High palate Low-set ears Neoplasm Spinocerebellar tract disease in lower limbs Flattened moderately deformed vertebrae Synovial hypertrophy Progressive joint destruction Abnormality of dental structure Antineutrophil antibody positivity Abnormality of joint mobility Hypoplastic inferior ilia Arrhythmia Decreased pulmonary function Generalized abnormality of skin Increased hepatic glycogen content Increased vertebral height Spondylolysis Oligosacchariduria Cerebral dysmyelination Retinal thinning Long ear Abnormality of the gingiva Cranial hyperostosis Vacuolated lymphocytes Thoracolumbar kyphosis Abnormal echocardiogram Abnormality of cardiovascular system morphology Severe short stature Abnormal cornea morphology Tachycardia Apraxia Eczema Overgrowth Abnormality of the skin Growth hormone deficiency Webbed neck Premature birth Nevus Sepsis Tetraplegia Ascites High, narrow palate Hematuria Wide nose Joint hypermobility Posteriorly rotated ears Astigmatism Delayed puberty Arthrogryposis multiplex congenita Sparse hair Postnatal growth retardation Apnea Abnormality of the nervous system Carcinoma Hypoglycemia Polyhydramnios Proptosis Hyperkeratosis Respiratory failure Hypogonadism Synovitis Abnormality of the rib cage Atrial fibrillation Cherry red spot of the macula Retinal degeneration Confusion Abnormality of the cerebral white matter Mental deterioration Arthritis Skeletal dysplasia Mandibular prognathia Prominent forehead Recurrent infections Immunodeficiency Splenomegaly Intellectual disability, severe Impaired thermal sensitivity Abnormality of glycosphingolipid metabolism Progressive psychomotor deterioration Highly arched eyebrow Upper motor neuron dysfunction Motor deterioration Supranuclear gaze palsy Episodic abdominal pain Orthostatic hypotension Impotence Emotional lability Hemiplegia Fasciculations Hypohidrosis Chronic diarrhea Urinary incontinence Dementia Blindness Thick eyebrow Gliosis Craniofacial hyperostosis Bowel incontinence Spondylolisthesis Abnormality of the helix Reduced ejection fraction Hydrocele testis Dysostosis multiplex Impaired smooth pursuit Delusions Severe sensorineural hearing impairment Aseptic necrosis Limb dystonia Bronchitis Thickened calvaria Abnormality of the sternum Femoral bowing Bowing of the legs Delayed myelination Flat occiput Prominent supraorbital ridges Increased intracranial pressure Recurrent bacterial infections Low anterior hairline Spastic gait Hallucinations Limb ataxia Tall stature Bowing of the long bones Hypertrichosis Depressed nasal ridge Pancytopenia Decreased antibody level in blood Epidermal acanthosis Hypoplasia of dental enamel Craniosynostosis Ganglioneuroblastoma Vitreomacular adhesion Myofiber disarray Enlarged cerebellum Macrocephaly at birth Loose anagen hair Cardiomyocyte hypertrophy Bladder carcinoma Choroid plexus papilloma Neonatal sepsis Multifocal atrial tachycardia Embryonal rhabdomyosarcoma Deep-set nails Vestibular Schwannoma Frontal hirsutism Transitional cell carcinoma of the bladder Alveolar rhabdomyosarcoma Concentric hypertrophic cardiomyopathy Hypopnea Shyness Postprandial hyperglycemia Body odor Ulnar deviation of the wrist Duodenal ulcer Abnormal pulmonary valve morphology Bladder neoplasm Capillary malformation Triangular mouth Melena Hematemesis Deep plantar creases Tendon rupture Lymphangiectasis Large face Glaucoma Joint stiffness Autistic behavior Protruding ear Hyperlordosis Developmental regression Abnormality of the kidney Cleft lip Proteinuria Pes planus Arthralgia High forehead Hypothyroidism Autism Micropenis Abdominal pain Congenital neuroblastoma Diabetes mellitus Cerebellar hypoplasia Constipation Clinodactyly of the 5th finger Patent ductus arteriosus Obesity Congestive heart failure Intrauterine growth retardation Wide nasal bridge Cleft palate Microcephaly Increased corneal curvature Systolic heart murmur Thickened Achilles tendon Thin nail Papilloma Decreased body weight Aortic aneurysm Tracheomalacia Generalized hyperpigmentation Ulnar deviation of finger Rhabdomyolysis Neuroblastoma Curly hair Keratoconus Reduced subcutaneous adipose tissue Large for gestational age Rocker bottom foot Tricuspid regurgitation Bilateral cryptorchidism Hyperglycemia Pleural effusion Pyloric stenosis Syringomyelia Hyperextensible skin Poor suck Laryngomalacia Relative macrocephaly Hemangioma Acanthosis nigricans Short chin Abnormality of the hair Cafe-au-lait spot Hydrops fetalis Lymphedema Wide anterior fontanel Hyperpigmentation of the skin Long eyelashes Central hypotonia Neonatal hypoglycemia Bronchomalacia Labial hypoplasia Limited elbow movement Abnormality of earlobe Schwannoma Broad femoral neck Rhabdomyosarcoma Hyperextensibility of the finger joints Pneumothorax Concave nail Hypoplasia of teeth Fasting hypoglycemia Broad philtrum Abnormal mitral valve morphology Asymmetric septal hypertrophy Deep palmar crease Redundant neck skin Obstructive sleep apnea Abnormality of the testis Lack of skin elasticity Central apnea Verrucae Large forehead Achilles tendon contracture Thick upper lip vermilion Woolly hair Progeroid facial appearance Barrel-shaped chest Fragile nails Thickened nuchal skin fold Microscopic hematuria Severe postnatal growth retardation Distal upper limb amyotrophy


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