Ataxia, and Obesity

Diseases related with Ataxia and Obesity

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


Top matches:

Low match JOUBERT SYNDROME 8; JBTS8


Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about JOUBERT SYNDROME 8; JBTS8

Low match AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 3


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

Low match COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 15


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

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Other less relevant matches:

Low match FATAL INFANTILE LACTIC ACIDOSIS WITH METHYLMALONIC ACIDURIA


Fatal infantile lactic acidosis with methylmalonic aciduria is a rare neurometabolic disease characterized by infantile onset of severe encephalomyopathy, lactic acidosis and elevated methylmalonic acid urinary excretion. Clinically it manifests with severe psychomotor delay, hypotonia, failure to thrive, feeding difficulties and dystonia. Epilepsy and multiple congenital anomalies may be associated.

FATAL INFANTILE LACTIC ACIDOSIS WITH METHYLMALONIC ACIDURIA Is also known as lactic acidosis, fatal infantile, formerly

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about FATAL INFANTILE LACTIC ACIDOSIS WITH METHYLMALONIC ACIDURIA

Low match LAURENCE-MOON SYNDROME


Laurence-Moon syndrome (LMS) is a very rare genetic multisystemic disorder characterized by pituitary dysfunction, ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinal dystrophy.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Ataxia
  • Nystagmus
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about LAURENCE-MOON SYNDROME

Low match DORFMAN-CHANARIN DISEASE


DORFMAN-CHANARIN DISEASE Is also known as neutral lipid storage disease with ichthyosis|nlsdi

Related symptoms:


SOURCES: ORPHANET MENDELIAN

More info about DORFMAN-CHANARIN DISEASE

Low match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 11


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

Low match SPASTIC PARAPLEGIA-SEVERE DEVELOPMENTAL DELAY-EPILEPSY SYNDROME


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

Low 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

Low match OLIVER-MCFARLANE SYNDROME; OMCS


Oliver-McFarlane syndrome is a rare congenital disorder characterized by trichomegaly, severe chorioretinal atrophy and multiple pituitary hormone deficiencies, including growth hormone (GH ), gonadotropins (see {118860}), and thyroid-stimulating hormone (TSH; see {118850}). Thyroid and GH abnormalities may be present at birth and, if untreated, result in intellectual impairment and profound short stature. Congenital hypogonadism occurs in half of patients, and nearly all have documented hypogonadotropic hypogonadism during puberty, with subsequent reproductive dysfunction. Chorioretinal atrophy is typically noted in the first 5 years of life. Half of reported cases have spinocerebellar involvement, including ataxia, spastic paraplegia, and peripheral neuropathy (summary by Hufnagel et al., 2015).Laurence-Moon syndrome (OMIM ) is an allelic disorder with overlapping features.

OLIVER-MCFARLANE SYNDROME; OMCS Is also known as eyelashes, long, with mental retardation|trichomegaly with mental retardation, dwarfism, and pigmentary degeneration of retina

Related symptoms:

  • Intellectual disability
  • Short stature
  • Ataxia
  • Growth delay
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about OLIVER-MCFARLANE SYNDROME; OMCS

Top 5 symptoms//phenotypes associated to Ataxia and Obesity

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Nystagmus Uncommon - Between 30% and 50% cases
Dysarthria Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Paraplegia Muscle weakness Cognitive impairment Short stature Muscular hypotonia Generalized hypotonia Peripheral neuropathy Growth delay Lower limb spasticity Sensorineural hearing impairment Cryptorchidism Gait disturbance Unsteady gait Hypoplasia of penis Gait ataxia Visual impairment Spastic paraplegia Delayed speech and language development Spasticity Strabismus Cerebral atrophy

Rare Symptoms - Less than 30% cases


Tremor Abnormal pyramidal sign Abnormality of the cerebral white matter Hearing impairment Microcephaly Failure to thrive Overweight Skeletal muscle atrophy Dystonia Hypoglycemia Progressive spastic paraplegia Mental deterioration Hypogonadotrophic hypogonadism Gynecomastia Abnormality of cardiovascular system morphology Delayed puberty Pes cavus Micropenis Retinal degeneration Peripheral axonal neuropathy Distal amyotrophy Urinary incontinence Muscular hypotonia of the trunk Hypoplasia of the corpus callosum Rod-cone dystrophy Lower limb hyperreflexia Cataract Urinary urgency Pigmentary retinopathy Hypogonadism Ankle clonus Spastic gait Babinski sign Retinal dystrophy Inability to walk Abnormality of the foot Generalized myoclonic seizures Delayed myelination Waddling gait Lumbar hyperlordosis Tetraparesis Downturned corners of mouth Fasciculations Broad-based gait Hip dislocation Cerebral white matter atrophy Puberty and gonadal disorders Structural foot deformity Exophoria Delayed peripheral myelination Abnormality of the musculature of the lower limbs Absent pubertal growth spurt Focal myoclonic seizures Generalized tonic-clonic seizures Hyperesthesia Developmental regression Thenar muscle atrophy Abnormality of the periventricular white matter Abnormality of the eye Urinary bladder sphincter dysfunction Corpus callosum atrophy Motor polyneuropathy Saccadic smooth pursuit Degeneration of the lateral corticospinal tracts Upper limb spasticity Progressive spastic paraparesis Tip-toe gait Knee clonus Deeply set eye Demyelinating sensory neuropathy Distal peripheral sensory neuropathy Temporal cortical atrophy Scoliosis Hypertelorism Myopia Macrocephaly Abnormality of the skeletal system Talipes equinovarus Cleft palate Difficulty walking Kyphosis Skeletal dysplasia Ptosis Sparse scalp hair Alopecia Severe short stature Hypothyroidism Pallor Sparse hair Distal muscle weakness Small for gestational age Thick eyebrow Progressive cerebellar ataxia Growth hormone deficiency Clumsiness Frontal bossing Long eyelashes Horizontal nystagmus Sensory axonal neuropathy Chorioretinal atrophy Retinal atrophy Progressive gait ataxia Recurrent hypoglycemia Titubation Alopecia areata Choroideremia Long eyebrows Cerebellar atrophy Hypothalamic gonadotropin-releasing hormone deficiency Delayed skeletal maturation Hepatomegaly Jaundice Axonal loss Pes planus Absent speech Ichthyosis Recurrent fractures Renal agenesis Decreased testicular size Primary amenorrhea Hypertonia Reduced bone mineral density Erectile abnormalities Anosmia Reduced number of teeth Abnormality of the voice Abnormality of color vision Decreased fertility Hyposmia Anterior hypopituitarism Abnormality of female internal genitalia Breast hypoplasia Bimanual synkinesia Dyspareunia Impaired vibration sensation in the lower limbs CNS hypomyelination Decreased number of peripheral myelinated nerve fibers Polydactyly Cardiomyopathy Intellectual disability, severe Postaxial polydactyly Abnormality of the kidney Encephalopathy Hyperhidrosis Respiratory failure Acidosis Rigidity Abnormality of the nervous system Severe global developmental delay Bradykinesia Lactic acidosis Metabolic acidosis Aciduria Abnormality of the skin Progressive neurologic deterioration Shock Hypophosphatemia Muscle fibrillation Severe lactic acidosis Methylmalonic aciduria Respiratory insufficiency Feeding difficulties Poor motor coordination Poor speech Lower limb hypertonia Cystic renal dysplasia Distal lower limb muscle weakness Distal lower limb amyotrophy Macular dystrophy Optic atrophy Ventricular septal defect Reduced visual acuity Toe walking Impaired vibratory sensation Cone/cone-rod dystrophy Renal dysplasia Tetraplegia Increased serum lactate Spastic tetraplegia Intention tremor Ragged-red muscle fibers Incoordination Pituitary adenoma Increased CSF lactate Wolff-Parkinson-White syndrome Frequent falls Necrotizing encephalopathy Episodic metabolic acidosis Abnormality of eye movement Involuntary movements Molar tooth sign on MRI Lower limb muscle weakness Paresthesia Oculomotor apraxia Encephalocele Optic disc pallor Sensory neuropathy Polyneuropathy Sensory impairment Specific learning disability Sensorimotor neuropathy Paralysis Muscle stiffness Paraparesis Spastic paraparesis Macular degeneration Reduced tendon reflexes Aplasia/Hypoplasia of the corpus callosum Hydrometrocolpos Oral-pharyngeal dysphagia Axonal degeneration Gaze-evoked nystagmus Occipital encephalocele Cerebral cortical atrophy Renal aminoaciduria Bilateral single transverse palmar creases Intermittent hyperpnea at rest Epicanthus Brachydactyly Renal insufficiency Motor delay Brachycephaly Low-set, posteriorly rotated ears Finger syndactyly Iris coloboma Type II diabetes mellitus Hand polydactyly Hyperventilation Congenital hepatic fibrosis Displacement of the external urethral meatus Abnormality of the antitragus Pain Hyperreflexia Dysphagia Ventriculomegaly Undetectable electroretinogram Dilatation Agenesis of corpus callosum Central heterochromia



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Cardiomyopathy and Corneal opacity, related diseases and genetic alterations Cryptorchidism and Hip dysplasia, related diseases and genetic alterations Cleft palate and Holoprosencephaly, related diseases and genetic alterations Hypertelorism and Thin skin, related diseases and genetic alterations Sensorineural hearing impairment and Asthma, related diseases and genetic alterations

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