Ataxia, and Pectus carinatum

Diseases related with Ataxia and Pectus carinatum

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


Top matches:

Medium match SPINOCEREBELLAR ATAXIA 43; SCA43


Spinocerebellar ataxia-43 is an autosomal dominant, slowly progressive neurologic disorder characterized by adult-onset gait and limb ataxia and often associated with peripheral neuropathy mainly affecting the motor system, although some patients may have distal sensory impairment (summary by Depondt et al., 2016).For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (OMIM ).

Related symptoms:

  • Ataxia
  • Nystagmus
  • Pain
  • Peripheral neuropathy
  • Dysarthria


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 43; SCA43

Medium match SPINOCEREBELLAR ATAXIA TYPE 43


Spinocerebellar ataxia type 43 is a rare autosomal dominant cerebellar ataxia type I disorder characterized by late adult-onset of slowly progressive cerebellar ataxia, typically presenting with balance and gait disturbances, in association with axonal peripheral neuropathy resulting in reduced/absent deep tendon reflexes and sensory impairment. Lower limb pain and amyotrophy may be present, as well as various cerebellar signs, including dysarthria, nystagmus, hypometric saccades and tremor.

SPINOCEREBELLAR ATAXIA TYPE 43 Is also known as sca43

Related symptoms:

  • Pain
  • Dysarthria
  • Areflexia
  • Hyporeflexia
  • Pes cavus


SOURCES: ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 43

Medium match EARLY-ONSET PROGRESSIVE NEURODEGENERATION-BLINDNESS-ATAXIA-SPASTICITY SYNDROME


Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome is a genetic neurodegenerative disease characterized by normal early development followed by childhood onset optic atrophy with progressive vision loss and eventually blindness, followed by progressive neurological decline that typically includes cerebellar ataxia, nystagmus, dorsal column dysfunction (decreased vibration and position sense), spastic paraplegia and finally tetraparesis.

EARLY-ONSET PROGRESSIVE NEURODEGENERATION-BLINDNESS-ATAXIA-SPASTICITY SYNDROME Is also known as ndgoa|neurodegeneration with optic atrophy, childhood-onset

Related symptoms:

  • Seizures
  • Ataxia
  • Nystagmus
  • Spasticity
  • Cognitive impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about EARLY-ONSET PROGRESSIVE NEURODEGENERATION-BLINDNESS-ATAXIA-SPASTICITY SYNDROME

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Other less relevant matches:

Medium match TELO2-RELATED INTELLECTUAL DISABILITY-NEURODEVELOPMENTAL DISORDER


TELO2-RELATED INTELLECTUAL DISABILITY-NEURODEVELOPMENTAL DISORDER Is also known as you-hoover-fong syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about TELO2-RELATED INTELLECTUAL DISABILITY-NEURODEVELOPMENTAL DISORDER

Medium match MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB


MRXSB is an X-linked dominant neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with behavioral abnormalities, and dysmorphic facial features. Additional variable features include musculoskeletal abnormalities, seizures, acquired microcephaly, and feeding problems with poor overall growth. Only females are affected (summary by Bain et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB

Medium match OVERGROWTH-MACROCEPHALY-FACIAL DYSMORPHISM SYNDROME


This syndrome is characterised by tall stature, learning difficulties and facial dysmorphism.

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Strabismus
  • Abnormal facial shape
  • Macrocephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about OVERGROWTH-MACROCEPHALY-FACIAL DYSMORPHISM SYNDROME

Medium match JABERI-ELAHI SYNDROME; JABELS


JABELS is an autosomal recessive neurodevelopmental disorder characterized by developmental delay and intellectual disability with additional variable features. Patients have onset of symptoms in infancy, but the severity is highly variable. Some patients have social interaction and learn to walk but have an ataxic gait and abnormal movements, such as tremor or dystonia, whereas others do not achieve any motor control and are unable to speak. Additional features may include retinal anomalies, visual impairment, microcephaly, abnormal foot or hand posturing, and kyphoscoliosis; some patients have dysmorphic facial features or seizures. Brain imaging typically shows cerebellar atrophy and hypoplasia of the corpus callosum (summary by Jaberi et al., 2016 and Bertoli-Avella et al., 2018).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about JABERI-ELAHI SYNDROME; JABELS

Medium match OPTIC ATROPHY-PERIPHERAL NEUROPATHY-DEVELOPMENTAL DELAY SYNDROME


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).

OPTIC ATROPHY-PERIPHERAL NEUROPATHY-DEVELOPMENTAL DELAY SYNDROME Is also known as harel-yoon syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about OPTIC ATROPHY-PERIPHERAL NEUROPATHY-DEVELOPMENTAL DELAY SYNDROME

Medium match SIALIDOSIS TYPE 1


Sialidosis type 1 (ST-1) is a very rare lysosomal storage disease, and is the normosomatic form of sialidosis (see this term), characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonic epilepsy and ataxia, that usually presents in the second to third decade of life.

SIALIDOSIS TYPE 1 Is also known as cherry-red spot-myoclonus syndrome|normomorphic sialidosis|lipomucopolysaccharidosis

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET MENDELIAN

More info about SIALIDOSIS TYPE 1

Medium match PRESYNAPTIC CONGENITAL MYASTHENIC SYNDROMES


Myasthenia gravis is a disease that causes weakness in the muscles under your control. It happens because of a problem in communication between your nerves and muscles. Myasthenia gravis is an autoimmune disease. Your body's own immune system makes antibodies that block or change some of the nerve signals to your muscles. This makes your muscles weaker. Common symptoms are trouble with eye and eyelid movement, facial expression and swallowing. But it can also affect other muscles. The weakness gets worse with activity, and better with rest. There are medicines to help improve nerve-to-muscle messages and make muscles stronger. With treatment, the muscle weakness often gets much better. Other drugs keep your body from making so many abnormal antibodies. There are also treatments which filter abnormal antibodies from the blood or add healthy antibodies from donated blood. Sometimes surgery to take out the thymus gland helps. For some people, myasthenia gravis can go into remission and they do not need medicines. The remission can be temporary or permanent. If you have myasthenia gravis, it is important to follow your treatment plan. If you do, you can expect your life to be normal or close to it. NIH: National Institute of Neurological Disorders and Stroke

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about PRESYNAPTIC CONGENITAL MYASTHENIC SYNDROMES

Top 5 symptoms//phenotypes associated to Ataxia and Pectus carinatum

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Nystagmus Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Gait ataxia Uncommon - Between 30% and 50% cases
Spasticity Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Ataxia and Pectus carinatum. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hyporeflexia Distal amyotrophy Abnormal facial shape Scoliosis Absent speech Pes cavus Global developmental delay Generalized hypotonia Tremor Feeding difficulties Cerebellar atrophy Visual impairment Kyphoscoliosis Cataract Thick lower lip vermilion Optic atrophy Microcephaly Myopia Joint laxity Peripheral neuropathy Peripheral axonal neuropathy

Rare Symptoms - Less than 30% cases


Esotropia Cerebellar vermis atrophy Micrognathia Failure to thrive Long face Limb ataxia Optic nerve hypoplasia Inability to walk Short stature Progressive visual loss Distal sensory impairment Hearing impairment Unsteady gait Dysarthria Sensorineural hearing impairment Pain High palate Areflexia Dysmetria Abnormality of movement Frontal bossing Sensorimotor neuropathy Distal lower limb muscle weakness Short nose Kyphosis Gastroesophageal reflux Delayed skeletal maturation Hyperreflexia Autistic behavior Hypometric saccades Pes planus Cogwheel rigidity Low-set ears Gait disturbance Delayed speech and language development Skeletal muscle atrophy Splenomegaly Retinopathy Hernia Myoclonus Slurred speech Aminoaciduria Corneal opacity Coarse facial features Neurological speech impairment EEG abnormality Abnormal form of the vertebral bodies Skeletal dysplasia Hyperkeratosis Muscular hypotonia of the trunk Wide nasal bridge High forehead Broad-based gait Abnormal autonomic nervous system physiology Sparse eyelashes Brittle hair Sparse eyebrow Hand clenching Abnormality of the skeletal system Cardiomyopathy Upslanted palpebral fissure Mandibular prognathia Deeply set eye Muscular hypotonia Hypertrophic cardiomyopathy Congenital cataract Delayed puberty Abnormality of the foot Increased serum lactate Aciduria Hip dysplasia Absence seizures Abnormality of mitochondrial metabolism Muscle weakness Decreased nerve conduction velocity Generalized muscle weakness Short thorax Spinal deformities Bulbar palsy Spinal rigidity Weak cry Fatigable weakness Neck muscle weakness Central hypotonia Obstructive sleep apnea Limb-girdle muscle weakness Motor polyneuropathy Muscle fiber atrophy Respiratory arrest Central sleep apnea Stridor EEG with polyspike wave complexes Staring gaze Sudden episodic apnea Nasal regurgitation Apneic episodes precipitated by illness, fatigue, stress Choking episodes Narrow jaw Intermittent episodes of respiratory insufficiency due to muscle weakness Frontalis muscle weakness Episodic respiratory distress EMG: impaired neuromuscular transmission Toe walking Nasal speech Dysostosis multiplex Arthrogryposis multiplex congenita Vascular skin abnormality Cherry red spot of the macula Increased urinary O-linked sialopeptides Urinary excretion of sialylated oligosaccharides Ptosis Motor delay Dysphagia Recurrent respiratory infections Polyhydramnios Difficulty walking Proximal muscle weakness Ophthalmoplegia Poor suck Fine hair Waddling gait Cyanosis Decreased fetal movement Diplopia Congenital hip dislocation Microretrognathia EMG: myopathic abnormalities Poor head control Easy fatigability Dysphonia Choreoathetosis Large for gestational age Narrow forehead Pectus excavatum Myokymia Titubation Upper limb spasticity Gaze-evoked horizontal nystagmus Facial myokymia Head titubation Cleft palate Brachydactyly Syndactyly Clinodactyly Myotonia Toe syndactyly Chorea Blue sclerae Cerebral visual impairment Rotary nystagmus Ankyloglossia Hypertelorism Epicanthus Hypertonia Behavioral abnormality Ankle clonus Horizontal nystagmus Hyperactivity Distal upper limb muscle weakness Rigidity Polyneuropathy Sensory impairment Distal lower limb amyotrophy Limb pain Palmomental reflex Dementia Progressive cerebellar ataxia Foot dorsiflexor weakness Decreased number of large peripheral myelinated nerve fibers Cognitive impairment Fasciculations Flexion contracture Cerebral atrophy Visual loss Babinski sign Spastic paraplegia Paraplegia Neurodegeneration Intention tremor Tetraparesis Clonus Constipation Autism Generalized-onset seizure Talipes equinovarus Tall stature Accelerated skeletal maturation Neurofibromas Abnormality of the sternum Speech apraxia Unilateral cryptorchidism Abnormal pulmonary valve morphology Cranial asymmetry Aplasia/Hypoplasia of the optic nerve Depressed nasal bridge Hypoplasia of the corpus callosum Broad nasal tip Abnormality of the dentition Dystonia Cerebellar hypoplasia Agenesis of corpus callosum Protruding ear Joint stiffness Distal muscle weakness Talipes Joint hypermobility Dandy-Walker malformation Overgrowth Pulmonic stenosis Anxiety Short palpebral fissure Aggressive behavior Developmental regression Hyperlordosis Wide mouth Attention deficit hyperactivity disorder Short philtrum Thick vermilion border Abnormal cerebellum morphology Underdeveloped nasal alae Hypotelorism Postnatal microcephaly Broad forehead Stereotypy Self-injurious behavior Obsessive-compulsive behavior Strabismus Macrocephaly Downslanted palpebral fissures Intellectual disability, mild Long philtrum Abnormality of cardiovascular system morphology Thin upper lip vermilion Acetylcholine receptor antibody positivity



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