Ataxia, and Increased bone mineral density

Diseases related with Ataxia and Increased bone mineral density

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


Top matches:

Low match PROGRESSIVE MYOCLONIC EPILEPSY TYPE 7


A rare, genetic, neurological disorder characterized by childhood to adolescent onset of progressive myoclonus (which becomes very severe and results in major motor impediment) associated with infrequent tonic-clonic seizures, and, occasionally, ataxia. Learning disability prior to seizure onset and mild cognitive decline may be associated.

PROGRESSIVE MYOCLONIC EPILEPSY TYPE 7 Is also known as pme type 7|progressive myoclonus epilepsy type 7|epm7|myoclonus epilepsy and ataxia due to potassium channel mutation|meak|progressive myoclonic epilepsy due to kv3.1 deficiency

Related symptoms:

  • Seizures
  • Ataxia
  • Tremor
  • Cerebellar atrophy
  • Myoclonus


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROGRESSIVE MYOCLONIC EPILEPSY TYPE 7

Low match LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS; LCC


Leukoencephalopathy, brain calcifications, and cysts (LCC), also known as Labrune syndrome, is characterized by a constellation of features restricted to the central nervous system, including leukoencephalopathy, brain calcifications, and cysts, resulting in spasticity, dystonia, seizures, and cognitive decline (summary by Labrune et al., 1996).See also cerebroretinal microangiopathy with calcifications and cysts (CRMCC ), an autosomal recessive disorder caused by mutation in the CTC1 gene (OMIM ) that shows phenotypic similarities to Labrune syndrome. CRMCC includes the neurologic findings of intracranial calcifications, leukodystrophy, and brain cysts, but also includes retinal vascular abnormalities and other systemic manifestations, such as osteopenia with poor bone healing, a high risk of gastrointestinal bleeding, hair, skin, and nail changes, and anemia and thrombocytopenia. Although Coats plus syndrome and Labrune syndrome were initially thought to be manifestations of the same disorder, namely CRMCC, molecular evidence has excluded mutations in the CTC1 gene in patients with Labrune syndrome, suggesting that the 2 disorders are not allelic (Anderson et al., 2012; Polvi et al., 2012).

LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS; LCC Is also known as labrune syndrome

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS; LCC

Low match CLASSIC GALACTOSEMIA


Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease.

CLASSIC GALACTOSEMIA Is also known as galt deficiency|galactose-1-phosphate uridyltransferase deficiency|galactosemia type 1

Related symptoms:

  • Intellectual disability
  • Ataxia
  • Failure to thrive
  • Cataract
  • Feeding difficulties


SOURCES: ORPHANET MENDELIAN

More info about CLASSIC GALACTOSEMIA

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low match GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15


GPIBD15 is an autosomal recessive disorder characterized by delayed psychomotor development, variable intellectual disability, hypotonia, early-onset seizures in most patients, and cerebellar atrophy, resulting in cerebellar signs including gait ataxia and dysarthria. The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis (summary by Nguyen et al., 2017).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15 Is also known as developmental delay, epilepsy, cerebellar atrophy, and osteopenia

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15

Low match 46,XX GONADAL DYSGENESIS


46,XX gonadal dysgenesis (46,XX GD) is a primary ovarian defect leading to premature ovarian failure (POF; see this term) in otherwise normal 46,XX females as a result of failure of the gonads to develop or due to resistance to gonadotrophin stimulation.

46,XX GONADAL DYSGENESIS Is also known as xx female gonadal dysgenesis|46,xx pure gonadal dysgenesis|46,xx complete gonadal dysgenesis|follicular stimulating hormone-resistant ovaries|hypergonadotropic ovarian dysgenesis|xx-gd|46,xx ovarian dysgenesis|fsh-ro

Related symptoms:

  • Short stature
  • Hearing impairment
  • Microcephaly
  • Ataxia
  • Abnormality of metabolism/homeostasis


SOURCES: ORPHANET MENDELIAN

More info about 46,XX GONADAL DYSGENESIS

Low match CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 2; CRMCC2


CRMCC2 is an autosomal recessive multisystem disorder characterized by premature aging, pancytopenia, hypocellular bone marrow, osteopenia, liver fibrosis, and vascular telangiectasia resulting in gastrointestinal bleeding. Brain imaging shows intracranial calcifications and leukodystrophy, which may result in neurologic signs including spasticity, ataxia, or dystonia. Patients may also have retinal telangiectasia (summary by Simon et al., 2016).For a discussion of genetic heterogeneity of CRMCC, see CRMCC1 (OMIM ).

Related symptoms:

  • Ataxia
  • Growth delay
  • Spasticity
  • Hypertension
  • Intrauterine growth retardation


SOURCES: OMIM MENDELIAN

More info about CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 2; CRMCC2

Low match CARASIL


CARASIL is a hereditary cerebral small vessel disease characterized by early-onset gait disturbances, premature scalp alopecia, ischemic stroke, acute mid to lower back pain and progressive cognitive disturbances leading to severe dementia.

CARASIL Is also known as cerebrovascular disease with thin skin, alopecia, and disc disease|subcortical vascular encephalopathy, progressive|maeda syndrome|cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy

Related symptoms:

  • Ataxia
  • Nystagmus
  • Pain
  • Spasticity
  • Cognitive impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CARASIL

Low match CLASSIC MAPLE SYRUP URINE DISEASE


Classic maple syrup urine disease (classic MSUD) is the most severe and probably common form of MSUD (see this term) characterized by a maple syrup odor in the cerumen at birth, poor feeding, lethargy and focal dystonia, followed by progressive encephalopathy and central respiratory failure if untreated.

CLASSIC MAPLE SYRUP URINE DISEASE Is also known as keto acid decarboxylase deficiency|classic branched-chain ketoaciduria|classic branched-chain alpha-ketoacid dehydrogenase deficiency|classic msud|bckd deficiency|classic bckd deficiency|branched-chain ketoaciduria|branched-chain alpha-keto acid dehydroge

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CLASSIC MAPLE SYRUP URINE DISEASE

Low match PERRAULT SYNDROME


Perrault syndrome (PS) is characterized by the association of ovarian dysgenesis in females with sensorineural hearing impairment. In more recent PS reports, some authors have described neurologic abnormalities, notably progressive cerebellar ataxia and intellectual deficit.

PERRAULT SYNDROME Is also known as ovarian dysgenesis with sensorineural deafness|gonadal dysgenesis, xx type, with deafness|xx gonodal dysgenesis-deafness syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about PERRAULT SYNDROME

Top 5 symptoms//phenotypes associated to Ataxia and Increased bone mineral density

Symptoms // Phenotype % cases
Spasticity Common - Between 50% and 80% cases
Dysarthria Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Tremor Uncommon - Between 30% and 50% cases
Osteopenia Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Ataxia and Increased bone mineral density. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Osteoporosis Intellectual disability Ophthalmoplegia Mental deterioration Global developmental delay Abnormality of movement Cognitive impairment Abnormal pyramidal sign Hypertension Nystagmus Dysmetria Cerebellar atrophy Gait disturbance

Rare Symptoms - Less than 30% cases


Delayed speech and language development Unsteady gait Encephalopathy Hyperreflexia Cerebellar hypoplasia Gait ataxia Primary amenorrhea Abnormal cerebellum morphology Generalized-onset seizure Intellectual disability, mild Short stature Hearing impairment Delayed puberty Growth delay Secondary amenorrhea Gonadal dysgenesis Increased circulating gonadotropin level Abnormal facial shape Generalized hypotonia Hepatic failure Hypoglycemia Leukodystrophy Hemiparesis Abnormality of extrapyramidal motor function Abnormality of the vasculature Cerebral calcification Gastrointestinal hemorrhage Weight loss Inability to walk Feeding difficulties Lethargy Nausea and vomiting Myoclonus Anemia Dystonia Thrombocytopenia Abnormality of the cerebral white matter Leukoencephalopathy Coma Gaze-evoked nystagmus Nausea Postural instability Tetraplegia Irritability Feeding difficulties in infancy Hepatitis Otitis media Spastic tetraplegia Lactic acidosis Progressive encephalopathy Anxiety Fever Diffuse white matter abnormalities Knee pain Pseudobulbar signs Diffuse leukoencephalopathy Diffuse demyelination of the cerebral white matter Arteriosclerosis of small cerebral arteries Pancreatitis Muscular hypotonia Arteriosclerosis Vomiting Acidosis Hypertonia Headache Low back pain Depressivity Spastic ataxia Hyperactivity Respiratory failure Stroke-like episode Pseudobulbar paralysis Hallucinations Talipes equinovarus Cerebral palsy Bilateral ptosis Abnormality of the nervous system Infertility Peripheral axonal neuropathy Sensory neuropathy Polyneuropathy Amenorrhea Sensorimotor neuropathy Hyperkinesis Hammertoe Pes cavus Spastic diplegia Severe sensorineural hearing impairment Retinal atrophy Amelogenesis imperfecta Decreased serum testosterone level Titubation Progressive peripheral neuropathy Limited extraocular movements Rod-cone dystrophy Hyporeflexia Increased intracranial pressure Increased level of hippuric acid in urine Growth abnormality Impulsivity Opisthotonus Ketosis Ketoacidosis Ketonuria Episodic ataxia Cerebral edema Elevated plasma branched chain amino acids Areflexia Scoliosis Sensorineural hearing impairment Ptosis High palate Motor delay Peripheral neuropathy Emotional lability Short neck Urinary urgency Hepatosplenomegaly Apathy Infantile muscular hypotonia EEG abnormality Poor speech Hip dysplasia Narrow forehead Apraxia Status epilepticus Cerebral visual impairment Brisk reflexes Anteverted nares Microcephaly Abnormality of metabolism/homeostasis Delayed skeletal maturation Arachnodactyly Ambiguous genitalia Reduced bone mineral density Premature ovarian insufficiency Prominent forehead Optic atrophy Decreased fertility Sepsis Gliosis Hemiplegia Loss of speech Failure to thrive Cataract Jaundice Abnormal bleeding Speech apraxia Myopia Abnormality of the ovary Decreased fertility in females Speech articulation difficulties Impairment of galactose metabolism Hypertelorism Visual impairment Wide nasal bridge Pulmonary fibrosis Sparse pubic hair Back pain Stroke Pain Dysphagia Babinski sign Alopecia Dementia Rigidity Sparse hair Neurodegeneration Elevated serum acid phosphatase Urinary incontinence Memory impairment Peripheral demyelination Tetraparesis Diplopia Spastic gait Slurred speech Increased cerebral lipofuscin Erlenmeyer flask deformity of the femurs Decreased serum estradiol Telangiectasia Streak ovary Aplasia/Hypoplasia of the breasts Aplasia/hypoplasia of the uterus Osteoporosis of vertebrae Abnormality of secondary sexual hair Intrauterine growth retardation Pancytopenia Portal hypertension Hypersplenism Premature graying of hair Esophageal varix Retinal telangiectasia Fatigue Bone pain Spastic tetraparesis Cachexia Loss of consciousness Internuclear ophthalmoplegia



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Congestive heart failure and Hyperglycemia, related diseases and genetic alterations Hyperreflexia and Finger syndactyly, related diseases and genetic alterations Hydrocephalus and Pruritus, related diseases and genetic alterations Edema and Increased bone mineral density, related diseases and genetic alterations Ptosis and Dandy-Walker malformation, related diseases and genetic alterations Cryptorchidism and Limb-girdle muscular dystrophy, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more