Ataxia, and Retrognathia
Diseases related with Ataxia and Retrognathia
In the following list you will find some of the most common rare diseases related to Ataxia and Retrognathia that can help you solving undiagnosed cases.
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Autosomal recessive spastic paraplegia type 77 is a rare, pure or complex hereditary spastic paraplegia characterized by an infancy to childhood onset of slowly progressive lower limb spasticity, delayed motor milestones, gait disturbances, hyperreflexia and various muscle abnormalities, including weakness, hypotonia, intention tremor and amyotrophy. Ocular abnormalities (e.g. strabismus, ptosis) and other neurological abnormalities, such as dysarthria, seizures and extensor plantar responses, may also be associated.
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 77 Is also known as spg77
Related symptoms:
- Seizures
- Global developmental delay
- Generalized hypotonia
- Scoliosis
- Ataxia
SOURCES:
OMIM
ORPHANET
MENDELIAN
More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 77
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Autosomal recessive spastic paraplegia type 23 (SPG23) is a rare, complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature graying of hair, and characteristic facies (i.e. thin with ''sharp'' features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32.
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 23 Is also known as spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome|lison syndrome|spg23|spastic paraparesis, vitiligo, premature graying, characteristic facies|spastic paraplegia with pigmentary abnormalities
Related symptoms:
- Seizures
- Short stature
- Microcephaly
- Ataxia
- Micrognathia
SOURCES:
ORPHANET
OMIM
MESH
MENDELIAN
More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 23
Trichothiodystrophy is a rare autosomal recessive disorder in which patients have brittle, sulfur-deficient hair that displays a diagnostic alternating light and dark banding pattern, called 'tiger tail banding,' under polarizing microscopy. TTD patients display a wide variety of clinical features, including cutaneous, neurologic, and growth abnormalities. Common additional clinical features are ichthyosis, intellectual/developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections. There are both photosensitive and nonphotosensitive forms of the disorder (summary by Faghri et al., 2008).Sabinas brittle hair syndrome (OMIM ) is another form of nonphotosensitive TTD.For a discussion of genetic heterogeneity of trichothiodystrophy, see {601675}.
TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE; TTD4 Is also known as trichothiodystrophy-neurocutaneous syndrome|pollitt syndrome|abhs|trichothiodystrophy, nonphotosensitive 1|bids syndrome|ttdn1|amish brittle hair brain syndrome|hair-brain syndrome
Related symptoms:
- Intellectual disability
- Global developmental delay
- Short stature
- Generalized hypotonia
- Microcephaly
SOURCES:
OMIM
MENDELIAN
More info about TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE; TTD4
A distinct group of inborn defects of complex V (ATP synthase) is represented by the enzyme deficiency due to nuclear genome mutations characterized by a selective inhibition of ATP synthase biogenesis. Biochemically, the patients show a generalized decrease in the content of ATP synthase complex which is less than 30% of normal. Most cases present with neonatal-onset hypotonia, lactic acidosis, hyperammonemia, hypertrophic cardiomyopathy, and 3-methylglutaconic aciduria. Many patients die within a few months or years (summary by Mayr et al., 2010). Genetic Heterogeneity of Mitochondrial Complex V DeficiencyOther nuclear types of mitochondrial complex V deficiency include MC5DN2 (OMIM ), caused by mutation in the TMEM70 gene (OMIM ) on chromosome 8q21; MC5DN3 (OMIM ), caused by mutation in the ATP5E gene (ATP5F1E ) on chromosome 20q13; MC5DN4 (OMIM ), caused by mutation in the ATP5A1 gene (ATP5FA1 ) on chromosome 18q; and MC5DN5 (OMIM ), caused by mutation in the ATP5D gene (ATP5F1D ) on chromosome 19p13.Mutations in the mitochondrial-encoded MTATP6 (OMIM ) and MTATP8 (OMIM ) genes can also cause mitochondrial complex V deficiency (see, e.g., {551500} and {500003}).
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1; MC5DN1 Is also known as mitochondrial complex v (atp synthase) deficiency, atpaf2 type
Related symptoms:
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
- Microcephaly
SOURCES:
OMIM
MENDELIAN
More info about MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1; MC5DN1
Alpers Huttenlocher syndrome (AHS) is a cerebrohepatopathy and a rare and severe form of mitochondrial DNA (mtDNA) depletion syndrome characterized by the triad of progressive developmental regression, intractable seizures, and hepatic failure.
ALPERS-HUTTENLOCHER SYNDROME Is also known as alpers syndrome|alpers-huttenlocher syndrome|pndc|alpers progressive infantile poliodystrophy|progressive neuronal degeneration of childhood with liver disease|neuronal degeneration of childhood with liver disease, progressive|alpers diffuse degeneration
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
SOURCES:
OMIM
ORPHANET
MENDELIAN
More info about ALPERS-HUTTENLOCHER SYNDROME
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 Retrognathia
Symptoms // Phenotype |
% cases |
Seizures |
Common - Between 50% and 80% cases
|
Global developmental delay |
Common - Between 50% and 80% cases
|
Generalized hypotonia |
Common - Between 50% and 80% cases
|
Intellectual disability |
Uncommon - Between 30% and 50% cases
|
Feeding difficulties |
Uncommon - Between 30% and 50% cases
|
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Other less frequent symptoms
Patients with Ataxia and Retrognathia. may also develop some of the following symptoms:
Uncommon Symptoms - Between 30% and 50% cases
Motor delay
Short stature
Microcephaly
Micrognathia
Muscular hypotonia
Cognitive impairment
Ventricular septal defect
Failure to thrive
Acidosis
Low-set ears
Ptosis
Spasticity
Rare Symptoms - Less than 30% cases
Intrauterine growth retardation
Areflexia
Dysphagia
3-Methylglutaconic aciduria
Severe failure to thrive
Aciduria
Increased serum lactate
Cataract
Cryptorchidism
High palate
Obstructive sleep apnea
Hypospadias
Severe muscular hypotonia
Flexion contracture
Peripheral neuropathy
Kyphoscoliosis
Lactic acidosis
Waddling gait
Paraparesis
Spastic paraparesis
Nystagmus
Optic atrophy
Growth delay
Hepatomegaly
Cerebellar atrophy
Gait disturbance
Spastic paraplegia
Hyperreflexia
Paraplegia
Apnea
Metabolic acidosis
Poor head control
Inability to walk
Babinski sign
Gait ataxia
Frontal bossing
Celiac disease
Clumsiness
Hepatitis
Status epilepticus
Tics
Hemiparesis
Fetal akinesia sequence
Progressive neurologic deterioration
Increased CSF protein
Choreoathetosis
Cholestasis
Hepatic fibrosis
Progressive spasticity
Decreased liver function
Cerebral visual impairment
Progressive encephalopathy
Intellectual disability, progressive
Neuronal loss in central nervous system
Abnormality of vision
Slurred speech
Encephalitis
Akinesia
Abnormality of visual evoked potentials
Spastic diplegia
Generalized-onset seizure
Focal-onset seizure
Epileptic encephalopathy
Rigidity
Blindness
Vomiting
Hypertonia
Cerebral atrophy
Encephalopathy
Visual loss
Delayed speech and language development
Pneumonia
Dementia
Myoclonus
Hyperactivity
Respiratory failure
Jaundice
Elevated hepatic transaminase
Memory impairment
Abnormality of the eye
Developmental regression
Paralysis
Abnormality of the liver
Generalized tonic-clonic seizures
Abnormality of movement
Peripheral axonal neuropathy
Cirrhosis
Hepatic failure
Neurodegeneration
Coma
Gliosis
Brain atrophy
Astrocytosis
Gastrointestinal dysmotility
Lower limb amyotrophy
Bile duct proliferation
Muscle fiber atrophy
Poor suck
Nasal speech
Stridor
Toe walking
Bulbar palsy
Spinal rigidity
Weak cry
Fatigable weakness
Neck muscle weakness
Central hypotonia
Limb-girdle muscle weakness
Distal lower limb muscle weakness
Motor polyneuropathy
Respiratory arrest
Easy fatigability
Spinal deformities
Central sleep apnea
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
Dysphonia
EMG: myopathic abnormalities
Microvesicular hepatic steatosis
Gastroesophageal reflux
Micronodular cirrhosis
Gastric ulcer
Multifocal seizures
Cerebral degeneration
Phonic tics
Epilepsia partialis continua
Ethylmalonic aciduria
Cerebral cortical neurodegeneration
Sensorineural hearing impairment
Hyporeflexia
Recurrent respiratory infections
Pes cavus
Polyhydramnios
Difficulty walking
Microretrognathia
Proximal muscle weakness
Joint laxity
Pectus carinatum
Arthrogryposis multiplex congenita
Ophthalmoplegia
Long face
Distal amyotrophy
Generalized muscle weakness
Esotropia
Cyanosis
Decreased fetal movement
Diplopia
Congenital hip dislocation
Chronic hepatitis
Hyperammonemia
Fever
Hypopigmentation of the skin
Coxa valga
Accelerated skeletal maturation
Scrotal hypoplasia
Metaphyseal widening
2-3 toe syndactyly
Scaphocephaly
Broad femoral neck
Small for gestational age
Muscular hypotonia of the trunk
Abnormality of the nervous system
Hip dislocation
Lower limb muscle weakness
Sepsis
Hypotelorism
Nevus
Sensory impairment
Febrile seizures
Spastic gait
Cafe-au-lait spot
Narrow face
Horseshoe kidney
Dystonia
Abnormality of the genitourinary system
Bowel incontinence
Premature graying of hair
Axonal degeneration
Progressive spastic paraplegia
Rhizomelia
Astigmatism
Progeroid facial appearance
Oculomotor apraxia
Depressed nasal bridge
Abnormality of mitochondrial metabolism
Ventriculomegaly
Intellectual disability, severe
Hernia
Inguinal hernia
Polydactyly
Retinopathy
Postaxial polydactyly
Intestinal malrotation
Short palpebral fissure
Heterotopia
Molar tooth sign on MRI
Autism
Hamartoma
Teratoma
Hamartoma of tongue
Sacrococcygeal teratoma
Cerebral palsy
Lower limb spasticity
Intention tremor
Cleft palate
Bradykinesia
Urinary incontinence
Myopia
Dysmetria
Micropenis
Vitiligo
White hair
Hearing impairment
Wide mouth
Trichorrhexis nodosa
Concave nail
Tiger tail banding
Hypertension
Strabismus
Respiratory insufficiency
Cardiomyopathy
Congestive heart failure
Abnormality of cardiovascular system morphology
Abnormal heart morphology
Hypertrophic cardiomyopathy
Camptodactyly
Short philtrum
Corneal neovascularization
Prominent nasal bridge
Pulmonic stenosis
Scoliosis
Deeply set eye
Oligohydramnios
Cardiomegaly
Renal hypoplasia
Aortic valve stenosis
Cardiac arrest
Spontaneous abortion
Vertebral fusion
Rocker bottom foot
Severe lactic acidosis
Hypoplasia of teeth
Woolly hair
Progressive spastic paraparesis
Microphthalmia
Multiple lentigines
Flexion contracture of toe
Bowel urgency
Silver-gray hair
Hyperpigmented nevi
Hyperpigmentation in sun-exposed areas
Premature graying of body hair
Tremor
Skeletal muscle atrophy
Epicanthus
Dysarthria
Anteverted nares
Short nose
Agenesis of corpus callosum
Keratoconjunctivitis sicca
Hypogonadism
Cerebral cortical atrophy
Macrotia
Sparse hair
Ichthyosis
Microcornea
Small nail
Hypergonadotropic hypogonadism
Sparse eyelashes
Macular degeneration
Brittle hair
Decreased fertility
Partial agenesis of the corpus callosum
Acetylcholine receptor antibody positivity
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Failure to thrive and Limb muscle weakness, related diseases and genetic alterations
Scoliosis and Lymphedema, related diseases and genetic alterations
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