Dysarthria, and Increased body weight

Diseases related with Dysarthria and Increased body weight

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

Top matches:

JBTS32 is an autosomal recessive developmental disorder characterized by delayed psychomotor development, intellectual disability, dysmorphic facial features, and postaxial polydactyly. Brain imaging shows cerebellar abnormalities consistent with the molar tooth sign (MTS) (summary by De Mori et al., 2017).For discussion of genetic heterogeneity of Joubert syndrome, see JBTS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 32; JBTS32

CONDBA is a severe progressive neurodegenerative disorder characterized by loss of motor and cognitive skills between ages 2 and 7 years. Affected individuals may have normal development or mild developmental delay, but all eventually lose all motor skills, resulting in inability to walk, absence of language, and profound intellectual disability. Brain imaging shows progressive cerebral and cerebellar atrophy (summary by Edvardson et al., 2017).

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CHILDHOOD-ONSET MOTOR AND COGNITIVE REGRESSION SYNDROME WITH EXTRAPYRAMIDAL MOVEMENT DISORDER

Autosomal dominant spastic paraplegia type 3 is a rare, pure or complex subtype of hereditary spastic paraplegia, with highly variable phenotype, typically characterized by childhood-onset of minimally progressive, bilateral, mainly symmetric lower limb spasticity and weakness, associated with pes cavus, diminished vibration sense, sphincter disturbances and/or urinary bladder hyperactivity. Additional associated manifestations may include scoliosis, mild intellectual disability, optic atrophy, axonal motor neuropathy and/or distal amyotrophy.

AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 3 Is also known as strÜmpell disease

Related symptoms:

  • Global developmental delay
  • Ataxia
  • Growth delay
  • Cataract
  • Cognitive impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 3

Other less relevant matches:

Combined oxidative phosphorylation defect type 15 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by onset in infancy or early childhood of muscular hypotonia, gait ataxia, mild bilateral pyramidal tract signs, developmental delay (affecting mostly speech and coordination) and subsequent intellectual disability. Short stature, obesity, microcephaly, strabismus, nystagmus, reduced visual acuity, lactic acidosis, and a brain neuropathology consistent with Leigh syndrome are also reported.

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 15 Is also known as coxpd15

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 15

Hereditary spastic paraplegia (SPG or HSP) is characterized by progressive weakness and spasticity of the lower limbs due to degeneration of corticospinal axons. SPG11 is a form of complicated SPG, in that it has neurologic features in addition to spasticity.For a discussion of genetic heterogeneity of autosomal recessive SPG, see SPG5A (OMIM ).

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 11 Is also known as spastic paraplegia-intellectual disability-thin corpus callosum syndrome|nakamura-osame syndrome|spastic paraplegia, autosomal recessive, with mental impairment and thin corpus callosum|spastic paraplegia, autosomal recessive, complicated, with thin corpu

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 11

Kennedy disease is an X-linked recessive form of spinal muscular atrophy. It occurs only in men. Age at onset is usually in the third to fifth decade of life, but earlier involvement has been reported. The disorder is characterized by slowly progressive limb and bulbar muscle weakness with fasciculations, muscle atrophy, and gynecomastia (Harding et al., 1982). The disorder is clinically similar to, but genetically distinct from, classic forms of autosomal spinal muscular atrophy (see, e.g., SMA1; {253300}).

SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1 Is also known as kd|bulbospinal neuronopathy, x-linked recessive|xbsn|spinal and bulbar muscular atrophy|kennedy disease|bulbospinal muscular atrophy, x-linked|sbma|kennedy spinal and bulbar muscular atrophy

Related symptoms:

  • Ataxia
  • Muscle weakness
  • Muscular hypotonia
  • Pain
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1

Spastic paraplegia-severe developmental delay-epilepsy syndrome is a rare, genetic, complex spastic paraplegia disorder characterized by an infantile-onset of psychomotor developmental delay with severe intellectual disability and poor speech acquisition, associated with seizures (mostly myoclonic), muscular hypotonia which may be noted at birth, and slowly progressive spasticity in the lower limbs leading to severe gait disturbances. Ocular abnormalities and incontinence are commonly associated. Other symptoms may include verbal dyspraxia, hypogenitalism, macrocephaly and sensorineural hearing loss, as well as dystonic movements and ataxia with upper limb involvement.

SPASTIC PARAPLEGIA-SEVERE DEVELOPMENTAL DELAY-EPILEPSY SYNDROME Is also known as spastic paraplegia-psychomotor retardation-seizures syndrome|spprs syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPASTIC PARAPLEGIA-SEVERE DEVELOPMENTAL DELAY-EPILEPSY SYNDROME

Medium match KALLMANN SYNDROME

Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs).

KALLMANN SYNDROME Is also known as congenital hypogonadotropic hypogonadism with anosmia|olfacto-genital pathological sequence

Related symptoms:

  • Seizures
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: ORPHANET MENDELIAN

More info about KALLMANN SYNDROME

Severe intellectual disability and progressive spastic paraplegia is a rare complex spastic paraplegia characterized by an early onset hypotonia that progresses to spasticity, global developmental delay, severe intellectual disability and speech impairment, microcephaly, short stature and dysmorphic features. Patients often become non-ambulatory, and some develop seizures and stereotypic laughter.

SEVERE INTELLECTUAL DISABILITY AND PROGRESSIVE SPASTIC PARAPLEGIA Is also known as ap4 deficiency syndrome|cpsq4, formerly|cerebral palsy, spastic quadriplegic, 4, formerly

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE INTELLECTUAL DISABILITY AND PROGRESSIVE SPASTIC PARAPLEGIA

Medium match ACHONDROPLASIA

Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Muscular hypotonia
  • Depressed nasal bridge


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACHONDROPLASIA

Top 5 symptoms//phenotypes associated to Dysarthria and Increased body weight

Symptoms // Phenotype % cases
Ataxia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Obesity Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Dysarthria and Increased body weight. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Nystagmus Spasticity Muscular hypotonia Paraplegia Gait disturbance Visual impairment Generalized hypotonia Overweight Hypoplasia of the corpus callosum Short stature Delayed speech and language development Strabismus Muscle weakness Hyperreflexia Microcephaly Abnormal pyramidal sign Ventriculomegaly Axonal loss Cerebral cortical atrophy Lower limb spasticity Spastic paraplegia Babinski sign Cognitive impairment Tremor Dystonia Dysphagia Progressive spastic paraplegia Macrocephaly Difficulty walking Peripheral neuropathy

Rare Symptoms - Less than 30% cases

Cerebral atrophy Lumbar hyperlordosis Erectile abnormalities Abnormality of the skeletal system Talipes equinovarus Urinary incontinence Spastic gait Urinary urgency Kyphosis Lower limb hyperreflexia Ankle clonus Distal lower limb amyotrophy Waddling gait Decreased fertility Skeletal muscle atrophy Fasciculations Sensory neuropathy Abnormality of the cerebral white matter Poor speech Unsteady gait Tetraplegia Spastic tetraplegia Pes planus Pain Pes cavus Abnormality of the periventricular white matter Gynecomastia Intention tremor Sensorineural hearing impairment Cerebellar atrophy Rigidity Polydactyly Postaxial polydactyly Abnormal cerebellum morphology Muscular hypotonia of the trunk Mental deterioration Developmental regression Inability to walk Neurodegeneration Frontal bossing Depressed nasal bridge Abnormal facial shape Hypertelorism Decreased testicular size Neonatal short-limb short stature Renal agenesis Hypoplasia of penis Primary amenorrhea Hypogonadotrophic hypogonadism Abnormality of the voice Reduced bone mineral density Bimanual synkinesia Flexion contracture Abnormality of the elbow Hypothalamic gonadotropin-releasing hormone deficiency Dyspareunia Large forehead Diaphyseal thickening Breast hypoplasia Anosmia Abnormality of female internal genitalia Anterior hypopituitarism Hyposmia Abnormality of color vision Ichthyosis Reduced number of teeth Recurrent fractures Micropenis Delayed puberty Puberty and gonadal disorders Myopia Deeply set eye Hip dislocation Generalized tonic-clonic seizures Abnormality of the foot Retinal dystrophy Downturned corners of mouth Generalized myoclonic seizures Delayed myelination Abnormality of the ilium Tetraparesis Broad-based gait Childhood onset short-limb short stature Cerebral white matter atrophy Structural foot deformity Long thorax Exophoria Delayed peripheral myelination Abnormality of the musculature of the lower limbs Absent pubertal growth spurt Focal myoclonic seizures Cleft palate Cryptorchidism Ptosis Abnormality of cardiovascular system morphology Delayed skeletal maturation Narrow sacroiliac notch Wide nasal bridge Skeletal dysplasia Aplasia/hypoplasia of the extremities High palate Limb undergrowth Downslanted palpebral fissures Clonus Brachydactyly Intrauterine growth retardation Anteverted nares Genu varum Hydrocephalus Short long bone Disproportionate short-limb short stature Acanthosis nigricans Wormian bones Malar flattening Midface retrusion Severe short stature Hyperhidrosis Conductive hearing impairment Rhizomelia Elbow dislocation Dental crowding Apnea Bowing of the long bones Hyperlordosis Joint stiffness Neurological speech impairment Abnormal form of the vertebral bodies Abnormality of the metaphysis Narrow chest Joint hyperflexibility Micromelia Short palm Sudden cardiac death Dental malocclusion Abnormality of pelvic girdle bone morphology Chronic otitis media Intellectual disability, severe Pointed chin Hypertonia Absent speech Abnormality of the ribs Neonatal hypotonia Wide mouth Short philtrum Talipes Bulbous nose Narrow forehead Obstructive sleep apnea Amblyopia Spinal canal stenosis Stereotypy Narrow face Drooling Flared metaphysis Decreased muscle mass Disproportionate short stature Long nose Genu recurvatum Facial hypotonia Limited elbow extension Generalized joint laxity Spastic dysarthria Acetabular dysplasia Everted upper lip vermilion Shyness Scoliosis Mesomelia Prominent antihelix Coarse facial features Limb muscle weakness Hearing impairment Gait ataxia Bradykinesia Renal dysplasia Frequent falls Cone/cone-rod dystrophy Impaired vibratory sensation Toe walking Macular dystrophy Distal lower limb muscle weakness Cystic renal dysplasia Lower limb hypertonia Hydrometrocolpos Hyperesthesia Optic atrophy Ventricular septal defect Reduced visual acuity Hypogonadism Increased serum lactate Ragged-red muscle fibers Incoordination Pituitary adenoma Increased CSF lactate Wolff-Parkinson-White syndrome Dilatation Agenesis of corpus callosum Paralysis Lower limb muscle weakness Paresthesia Retinal degeneration Peripheral axonal neuropathy Distal amyotrophy Abnormality of the kidney Rod-cone dystrophy Sensory impairment Parkinsonism Intellectual disability, mild Polymicrogyria Apraxia Cerebellar vermis hypoplasia Tall stature Oculomotor apraxia Large for gestational age Molar tooth sign on MRI Elongated superior cerebellar peduncle Failure to thrive Feeding difficulties Hyperactivity Abnormality of movement Postural instability Gliosis Motor delay Chorea Brain atrophy Premature birth Peripheral demyelination Generalized-onset seizure Intellectual disability, profound Language impairment Impulsivity High pitched voice Motor deterioration Anarthria Growth delay Cataract Polyneuropathy Specific learning disability Proximal spinal muscular atrophy Muscle fibrillation Infertility Facial asymmetry Muscle cramps Type II diabetes mellitus Progressive muscle weakness Aspiration Hyperlipidemia Dysphonia Limb-girdle muscular dystrophy Spinal muscular atrophy Calf muscle hypertrophy Amyotrophic lateral sclerosis Impotence Bulbar palsy Abnormality of lipid metabolism Myalgia Abnormality of the mouth Hand tremor Aspiration pneumonia Bulbar signs Oligospermia Kinetic tremor Testicular atrophy Hyperlipoproteinemia Decreased LDL cholesterol concentration Tongue atrophy Limb tremor Motor neuron atrophy Exercise-induced muscle cramps Laryngospasm Muscular dystrophy Proximal muscle weakness Involuntary movements Corpus callosum atrophy Sensorimotor neuropathy Muscle stiffness Paraparesis Spastic paraparesis Macular degeneration Reduced tendon reflexes Aplasia/Hypoplasia of the corpus callosum CNS hypomyelination Oral-pharyngeal dysphagia Axonal degeneration Gaze-evoked nystagmus Decreased number of peripheral myelinated nerve fibers Impaired vibration sensation in the lower limbs Urinary bladder sphincter dysfunction Motor polyneuropathy Pneumonia Saccadic smooth pursuit Degeneration of the lateral corticospinal tracts Upper limb spasticity Progressive spastic paraparesis Tip-toe gait Thenar muscle atrophy Knee clonus Demyelinating sensory neuropathy Distal peripheral sensory neuropathy Temporal cortical atrophy Myopathy Areflexia Hyporeflexia Elevated serum creatine phosphokinase Acromelia


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