Myopathy, and Myoclonus

Diseases related with Myopathy and Myoclonus

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


Top matches:

Low match SPORADIC CREUTZFELDT-JAKOB DISEASE


Sporadic Creutzfeldt-Jakob disease (sCJD) is a subacute fatal neurodegenerative disease belonging to the group of prion diseases, characterized by a clinical triad of dementia, myoclonus, and EEG anomalies, along with neuropathological evidence of neuronal loss, spongiform changes, and astrocytosis. There are three types of CJD: sporadicCJD (sCJD), inherited CJD (see this term), and iatrogenic and variant CJD (vCJD).

SPORADIC CREUTZFELDT-JAKOB DISEASE Is also known as sporadic cjd|creutzfeldt-jakob disease, familial

Related symptoms:

  • Ataxia
  • Cataract
  • Spasticity
  • Visual impairment
  • Peripheral neuropathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPORADIC CREUTZFELDT-JAKOB DISEASE

Low match MCLEOD SYNDROME; MCLDS


Hematologically, McLeod syndrome is characterized by the absence of red blood cell Kx antigen, weak expression of Kell red blood cell antigens, acanthocytosis, and compensated hemolysis. Most carriers of this McLeod blood group phenotype have acanthocytosis and elevated serum creatine kinase levels and are prone to develop a severe neurologic disorder resembling Huntington disease (OMIM ). Onset of neurologic symptoms ranges between 25 and 60 years (mean onset 30-40 years), and penetrance appears to be high. Additional symptoms include generalized seizures, neuromuscular symptoms leading to weakness and atrophy, and cardiomyopathy mainly manifesting with atrial fibrillation, malignant arrhythmias, and dilated cardiomyopathy (summary by Jung et al., 2007).The cooccurrence of McLeod syndrome and chronic granulomatous disease (CGD ) results from a contiguous gene deletion (Francke et al., 1985).

MCLEOD SYNDROME; MCLDS Is also known as mcleod phenotype|neuroacanthocytosis, mcleod type

Related symptoms:

  • Seizures
  • Muscle weakness
  • Cognitive impairment
  • Anemia
  • Peripheral neuropathy


SOURCES: MESH OMIM MENDELIAN

More info about MCLEOD SYNDROME; MCLDS

Low match LEBER HEREDITARY OPTIC NEUROPATHY


Leber's hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease affecting the optic nerve and often characterized by sudden vision loss in young adult carriers.

LEBER HEREDITARY OPTIC NEUROPATHY Is also known as leber optic atrophy|lhon|leber hereditary optic neuropathy

Related symptoms:

  • Ataxia
  • Visual impairment
  • Peripheral neuropathy
  • Optic atrophy
  • Tremor


SOURCES: OMIM ORPHANET MENDELIAN

More info about LEBER HEREDITARY OPTIC NEUROPATHY

Mendelian

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

Learn more

Other less relevant matches:

Low match GERSTMANN-STRAUSSLER-SCHEINKER SYNDROME


Gerstmann-Straussler-Scheinker syndrome (GSSS) is a particular and rare form of human transmissible spongiform encephalopathy (TSE) due to a defective gene encoding the prion protein (PRNP gene) and marked by particular multicentric amyloid plaques in the brain.

GERSTMANN-STRAUSSLER-SCHEINKER SYNDROME Is also known as gerstmann-straussler-scheinker disease|prion dementia|subacute spongiform encephalopathy, gerstmann-straussler type|encephalopathy, subacute spongiform, gerstmann-straussler type|amyloidosis, cerebral, with spongiform encephalopathy|cerebellar ataxia, pro

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Spasticity


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about GERSTMANN-STRAUSSLER-SCHEINKER SYNDROME

Low match SEVERE NEURODEGENERATIVE SYNDROME WITH LIPODYSTROPHY


Severe neurodegenerative syndrome with lipodystrophy is a rare, genetic, neurodegenerative disorder characterized by progressive psychomotor and cognitive regression (manifesting with gait ataxia, spasticity, loss of language, mild to severe intellectual disability, pyramidal and extrapyramidal signs and, frequently, development of tretraplegia or tetraparesis) associated with variable degrees of lipodystrophy, hepatomegaly, hypertriglyceridemia and muscular hypertorphy. Hyperactivity, tremor and development of seizures may also be associated.

SEVERE NEURODEGENERATIVE SYNDROME WITH LIPODYSTROPHY Is also known as severe neurodegenerative syndrome due to bscl2 deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Ataxia
  • Spasticity
  • Cognitive impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about SEVERE NEURODEGENERATIVE SYNDROME WITH LIPODYSTROPHY

Low match MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA


Mitochondrial myopathy and sideroblastic anemia belongs to the heterogeneous family of metabolic myopathies. It is characterised by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anaemia around adolescence, lactic acidaemia, and mitochondrial myopathy.

MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA Is also known as msa|mlasa|myopathy, lactic acidosis and sideroblastic anemia|mitochondrial myopathy and sideroblastic anemia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Microcephaly
  • Scoliosis
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA

Low match HSD10 MITOCHONDRIAL DISEASE; HSD10MD


HSD10 mitochondrial disease most commonly presents as an X-linked neurodegenerative disorder with highly variable severity and age at onset ranging from the neonatal period to early childhood. The features are usually multisystemic, consistent with mitochondrial dysfunction. Some affected males have a severe infantile form associated with cardiomyopathy that may result in death in early childhood, whereas other rare patients may have juvenile onset or even atypical presentations with normal neurologic development. More severely affected males show developmental regression in infancy or early childhood, often associated with early-onset intractable seizures, progressive choreoathetosis and spastic tetraplegia, optic atrophy or retinal degeneration resulting in visual loss, and mental retardation. Heterozygous females may show non-progressive developmental delay and intellectual disability, but may also be clinically normal. Although the diagnosis can be aided by the observation of increased urinary levels of metabolites of isoleucine breakdown (2-methyl-3 hydroxybutyrate and tiglylglycine), there is not a correlation between these laboratory features and the phenotype. In addition, patients do not develop severe metabolic crises in the neonatal period as observed in other organic acidurias, but may show persistent lactic acidosis, most likely reflecting mitochondrial dysfunction (summary by Rauschenberger et al., 2010; review by Zschocke, 2012).In a review of the disorder, Zschocke (2012) noted that although this disorder was originally thought to be an inborn error of branched-chain fatty acid and isoleucine metabolism resulting from decreased HSD17B10 dehydrogenase activity (HSD17B10 'deficiency'), subsequent studies have shown that the HSD17B10 gene product has additional functions and also acts as a component of the mitochondrial RNase P holoenzyme, which is involved in mitochondrial tRNA processing and maturation and ultimately mitochondrial protein synthesis. The multisystemic features of HSD10MD most likely result from the adverse effect of HSD17B10 mutations on mitochondrial function, rather than from the effects on the dehydrogenase activity (see PATHOGENESIS below).

HSD10 MITOCHONDRIAL DISEASE; HSD10MD Is also known as hsd17b10 deficiency|mhbd deficiency|2-methyl-3-hydroxybutyryl-coa dehydrogenase deficiency|camr|mental retardation with chorioathetosis and abnormal behavior|mental retardation, x-linked, syndromic 10|17-beta-hydroxysteroid dehydrogenase x deficiency|chor

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about HSD10 MITOCHONDRIAL DISEASE; HSD10MD

Low match MUSCLE-EYE-BRAIN DISEASE


Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of DAG1 (OMIM ), collectively known as 'dystroglycanopathies' (summary by Godfrey et al., 2007).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCLE-EYE-BRAIN DISEASE Is also known as meb syndrome|santavuori congenital muscular dystrophy|walker-warburg syndrome or muscle-eye-brain disease, pomgnt1-related|muscle-eye-brain syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MUSCLE-EYE-BRAIN DISEASE

Low match MYOSTATIN-RELATED MUSCLE HYPERTROPHY


general increase in bulk of a muscle due to an increase in cell volume; it is not due to tumor formation, nor to an increase in the number of cells.

Related symptoms:

  • Myoclonus
  • Skeletal muscle hypertrophy


SOURCES: OMIM ORPHANET MENDELIAN

More info about MYOSTATIN-RELATED MUSCLE HYPERTROPHY

Low match COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 11


COXPD11 is a severe multisystemic autosomal recessive disorder characterized by neonatal hypotonia and lactic acidosis. Affected individuals may have respiratory insufficiency, foot deformities, or seizures, and all reported patients have died in infancy. Biochemical studies show deficiencies of multiple mitochondrial respiratory enzymes (summary by Garcia-Diaz et al., 2012).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 11 Is also known as coxpd11|encephaloneuromyopathy, infantile, due to mitochondrial translation defect

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 11

Top 5 symptoms//phenotypes associated to Myopathy and Myoclonus

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Encephalopathy Common - Between 50% and 80% cases
Cognitive impairment Uncommon - Between 30% and 50% cases
Peripheral neuropathy Uncommon - Between 30% and 50% cases
Tremor Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Myopathy and Myoclonus. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Gait ataxia Global developmental delay Dystonia Intellectual disability Ataxia Spasticity Blindness Cerebral atrophy EMG abnormality Anemia Hepatomegaly Dysarthria Cardiomyopathy Failure to thrive Areflexia Visual loss Optic atrophy Generalized hypotonia Abnormality of movement Muscular hypotonia Hearing impairment Nystagmus Acidosis Cerebral cortical atrophy Lactic acidosis Muscle weakness Microcephaly Hallucinations Hyperreflexia Confusion Neurodegeneration Mental deterioration Depressivity Anxiety Behavioral abnormality Rigidity Visual impairment

Rare Symptoms - Less than 30% cases


Gait disturbance Respiratory failure Abnormal pyramidal sign Headache Hypertonia Respiratory insufficiency Hypertension Cerebellar atrophy Delayed speech and language development Hyporeflexia Paralysis Dysphagia Mitochondrial myopathy Cataract Aggressive behavior Athetosis Reduced visual acuity Abnormality of mitochondrial metabolism Increased serum lactate Severe muscular hypotonia Pachygyria Spastic tetraplegia Neurological speech impairment Retinal degeneration Tetraplegia Neonatal hypotonia Hypoplasia of the corpus callosum Absent speech Dementia Developmental regression Tetraparesis Chorea Choreoathetosis Neuronal loss in central nervous system Memory impairment Supranuclear gaze palsy Gliosis Glaucoma Blurred vision Hydrocephalus Unsteady gait Micrognathia Dysesthesia Aphasia Personality changes Arrhythmia Elevated serum creatine phosphokinase Pallor Apathy Hepatic steatosis Muscular dystrophy Truncal ataxia High palate Aciduria Horizontal nystagmus Progressive neurologic deterioration Dehydration Spastic tetraparesis Scoliosis Progressive choreoathetosis Ptosis Drooling Agitation Persistent lactic acidosis Diffuse cerebral atrophy Gastrointestinal dysmotility Loss of ability to walk Abnormal mitochondrial morphology Restlessness Long philtrum Metabolic acidosis Hypochromic anemia Delayed puberty Progressive muscle weakness Stroke Tongue fasciculations Exercise intolerance Ragged-red muscle fibers Increased serum ferritin Stroke-like episode Distichiasis Sideroblastic anemia Cytochrome C oxidase-negative muscle fibers Edema Erythroid hyperplasia Generalized limb muscle atrophy Chronic lactic acidosis Abnormality of metabolism/homeostasis Sensorineural hearing impairment Intellectual disability, mild Hypoglycemia Short nose Hypertrophic cardiomyopathy Kyphosis Microcytic anemia Agenesis of corpus callosum Strabismus Uncontrolled eye movements Short neck Feeding difficulties Skeletal muscle hypertrophy Enlarged flash visual evoked potentials Short nasal bridge Hypoplasia of the retina Hypoglycosylation of alpha-dystroglycan Lethargy Cerebellar cyst Type II lissencephaly Cerebellar dysplasia Decreased light- and dark-adapted electroretinogram amplitude Buphthalmos Undetectable electroretinogram Renal insufficiency Arthrogryposis multiplex congenita Breech presentation Decreased liver function Hyperkalemia Hyponatremia Failure to thrive in infancy Chronic kidney disease CNS hypomyelination Fasciculations Renal dysplasia Abnormality of the foot Renal hypoplasia Epileptic encephalopathy Hypoventilation Increased CSF lactate Delayed myelination Renal cyst Hypoplasia of the pons Retinal dysplasia Myopia Renal tubular acidosis Polymicrogyria Congenital cataract Abnormality of the cerebral white matter Severe global developmental delay Coloboma EEG abnormality Cerebellar hypoplasia Generalized muscle weakness Midface retrusion Dilatation Microphthalmia Malar flattening Intellectual disability, severe Ventriculomegaly Everted lower lip vermilion High myopia Meningocele Aplasia/Hypoplasia of the cerebellum Megalocornea Retinal atrophy Congenital glaucoma Cortical dysplasia Hemiplegia/hemiparesis Hypoplasia of the brainstem Congenital muscular dystrophy Intellectual disability, profound Abnormality of the voice Optic nerve hypoplasia Infantile muscular hypotonia Aplasia/Hypoplasia of the corpus callosum Holoprosencephaly Opacification of the corneal stroma Encephalocele Lissencephaly Neurofibrillary tangles Reduced intraabdominal adipose tissue Scotoma Phonic tics Abnormality of the nervous system Polyneuropathy Migraine Progressive visual loss Optic disc pallor Telangiectasia Amblyopia Vasculitis Incoordination Atrioventricular block Abnormal electroretinogram Postural tremor Constriction of peripheral visual field Optic neuropathy Personality disorder Central scotoma Abnormality of visual evoked potentials Papilledema Increased reactive oxygen species production Dyschromatopsia Osteosarcoma Wolff-Parkinson-White syndrome Leber optic atrophy Neuritis Retinal vascular tortuosity Abnormality of the optic disc Vascular tortuosity Optic neuritis Ventricular preexcitation Abetalipoproteinemia Tics Pseudopapilledema Hirano bodies Recurrent infections Irritability Abnormal cerebellum morphology Hemiparesis Cerebral visual impairment Language impairment Visual field defect Muscle fibrillation Increased CSF protein Delusions Visual hallucinations Normal pressure hydrocephalus Loss of facial expression Extrapyramidal muscular rigidity Skeletal muscle atrophy Acanthocytosis Atrial fibrillation Motor axonal neuropathy Aspiration pneumonia Rhabdomyolysis Abnormality of the musculature Obsessive-compulsive behavior Aspiration Cardiomegaly Splenomegaly Generalized-onset seizure Dyskinesia Ichthyosis Dilated cardiomyopathy Hepatosplenomegaly Pneumonia Slow decrease in visual acuity Giant somatosensory evoked potentials Poor motor coordination Sleep disturbance Akinesia Emotional lability Alzheimer disease Global brain atrophy Insomnia Impaired smooth pursuit Lewy bodies Hypomimic face Perseveration Cerebral amyloid angiopathy Hyperactivity Coarse facial features Respiratory tract infection Cirrhosis Status epilepticus Hyperkinesis Hypertriglyceridemia Insulin resistance Generalized hirsutism Acanthosis nigricans Lipodystrophy Hyperinsulinemia Brisk reflexes Reduced subcutaneous adipose tissue Limb dystonia Loss of speech Progressive encephalopathy Generalized lipodystrophy Progressive psychomotor deterioration Caudate atrophy Slurred speech Mutism Retinal telangiectasia Poor speech Mitochondrial respiratory chain defects Plethora Vitritis Centrocecal scotoma Marcus Gunn pupil Central retinal vessel vascular tortuosity Abnormality of head blood vessel Reduced OCT-measured macular thickness Diarrhea Weight loss Difficulty walking Abnormality of the eye Limb muscle weakness Abnormality of eye movement Lower limb muscle weakness Muscle stiffness Abnormality of extrapyramidal motor function Limb ataxia Chronic diarrhea Involuntary movements Clumsiness Psychosis Apraxia Bradykinesia Dysmetria Hip dysplasia Brain atrophy Parkinsonism Progressive cerebellar ataxia Coma Paresthesia Microvesicular hepatic steatosis



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Ventricular septal defect and Lymphedema, related diseases and genetic alterations Hyperreflexia and Lactic acidosis, related diseases and genetic alterations Hyperreflexia and Acidosis, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more