Myopathy, and Spastic tetraplegia

Diseases related with Myopathy and Spastic tetraplegia

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


Top matches:

High 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

High 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

High match MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3; MMDS3


MMDS3 is an autosomal recessive severe neurodegenerative disorder characterized by loss of previously acquired developmental milestones in the first months or years of life. Some affected patients have normal development in early infancy before the onset of symptoms, whereas others show delays from birth. Features included loss of motor function, spasticity, pyramidal signs, loss of speech, and cognitive impairment. The disease course is highly variable: some patients die of respiratory failure early in childhood, whereas some survive but may be bedridden with a feeding tube. Less commonly, some patients may survive and have a stable course with motor deficits and mild or even absent cognitive impairment, although there may be fluctuating symptoms, often in response to infection. Other variable features include visual problems and seizures. Brain imaging shows diffuse leukodystrophy in the subcortical region, brainstem, cerebellum, and spinal cord. Laboratory studies tend to show increased lactate and CSF glycine, and decreased activity of mitochondrial complexes I and II, although these findings are also variable. There may be additional biochemical evidence of mitochondrial dysfunction (summary by Liu et al., 2018).For a general description and a discussion of genetic heterogeneity of multiple mitochondrial dysfunctions syndrome, see MMDS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3; MMDS3

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Other less relevant matches:

High match METACHROMATIC LEUKODYSTROPHY, LATE INFANTILE FORM


The metachromatic leukodystrophies comprise several allelic disorders. Kihara (1982) recognized 5 allelic forms of MLD: late infantile, juvenile, and adult forms, partial cerebroside sulfate deficiency, and pseudoarylsulfatase A deficiency; and 2 nonallelic forms: metachromatic leukodystrophy due to saposin B deficiency (OMIM ) and multiple sulfatase deficiency or juvenile sulfatidosis (OMIM ), a disorder that combines features of a mucopolysaccharidosis with those of metachromatic leukodystrophy.

METACHROMATIC LEUKODYSTROPHY, LATE INFANTILE FORM Is also known as sulfatide lipidosis|arsa deficiency|mld, late infantile form|arylsulfatase a deficiency|cerebroside sulfatase deficiency|metachromatic leukoencephalopathy|arylsulfatase a deficiency, late infantile form|cerebral sclerosis, diffuse, metachromatic form

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about METACHROMATIC LEUKODYSTROPHY, LATE INFANTILE FORM

High match 3-METHYLGLUTACONIC ACIDURIA TYPE 1


3-methylglutaconic aciduria (3-MGA) type I is an inborn error of leucine metabolism with a variable clinical phenotype ranging from mildly delayed speech to psychomotor retardation, coma, failure to thrive, metabolic acidosis and dystonia.

3-METHYLGLUTACONIC ACIDURIA TYPE 1 Is also known as 3-methylglutaconyl-coa hydratase deficiency|3mg-coa hydratase deficiency|mga1|3-mg-coa-hydratase deficiency|mga, type i

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about 3-METHYLGLUTACONIC ACIDURIA TYPE 1

High match ISOLATED SUCCINATE-COQ REDUCTASE DEFICIENCY


Mitochondrial complex II deficiency is an autosomal recessive disorder with a highly variable phenotype. Some patients have multisystem involvement of the brain, heart, muscle, liver, and kidneys resulting in death in infancy, whereas others have only isolated cardiac or muscle involvement with onset in adulthood and normal cognition. Measurement of complex II activity in muscle is the most reliable means of diagnosis; however, there is no clear correlation between residual complex II activity and severity or clinical outcome. In some cases, treatment with riboflavin may have clinical benefit (summary by Jain-Ghai et al., 2013).

ISOLATED SUCCINATE-COQ REDUCTASE DEFICIENCY Is also known as isolated succinate-ubiquinone reductase deficiency|isolated succinate-coenzyme q reductase deficiency|isolated mitochondrial respiratory chain complex ii deficiency|succinate coq reductase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ISOLATED SUCCINATE-COQ REDUCTASE DEFICIENCY

High match ISOLATED CYTOCHROME C OXIDASE DEFICIENCY


Complex IV (cytochrome c oxidase; {EC 1.9.3.1}) is the terminal enzyme of the respiratory chain and consists of 13 polypeptide subunits, 3 of which are encoded by mitochondrial DNA. The 3 mitochondrially encoded proteins in the cytochrome oxidase complex are the actual catalytic subunits that carry out the electron transport function (Saraste, 1983). See {123995} for discussion of some of the nuclear-encoded subunits.Shoubridge (2001) provided a comprehensive review of cytochrome c oxidase deficiency and noted that most isolated COX deficiencies are inherited as autosomal recessive disorders caused by mutations in nuclear-encoded genes; mutations in the mtDNA-encoded COX subunit genes are relatively rare.

ISOLATED CYTOCHROME C OXIDASE DEFICIENCY Is also known as isolated mitochondrial respiratory chain complex iv deficiency|cox deficiency|isolated cox deficiency|cytochrome c oxidase deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ISOLATED CYTOCHROME C OXIDASE DEFICIENCY

Medium match ACETYL-COA CARBOXYLASE DEFICIENCY; ACACAD


ACETYL-COA CARBOXYLASE DEFICIENCY; ACACAD Is also known as acc1 deficiency|acaca deficiency

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Myopathy


SOURCES: MESH OMIM MENDELIAN

More info about ACETYL-COA CARBOXYLASE DEFICIENCY; ACACAD

Low match MYASTHENIC SYNDROME, CONGENITAL, 2C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS2C


Congenital myasthenic syndrome associated with AChR deficiency is a disorder of the postsynaptic neuromuscular junction (NMJ) characterized clinically by early-onset muscle weakness with variable severity. Electrophysiologic studies show low amplitude of the miniature endplate potential (MEPP) and current (MEPC) resulting from deficiency of AChR at the endplate. Treatment with cholinesterase inhibitors or amifampridine may be helpful (summary by Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

Related symptoms:

  • Muscle weakness
  • Feeding difficulties
  • Respiratory insufficiency
  • Myopathy
  • Neonatal hypotonia


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 2C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS2C

Low match BRODY MYOPATHY


Brody myopathy, a disorder of fast-twitch skeletal muscle function, is characterized by exercise-induced impairment of skeletal muscle relaxation, stiffening, and cramps, predominantly in the arms, legs, and eyelids (summary by Odermatt et al., 2000).

Related symptoms:

  • Pain
  • Spasticity
  • Flexion contracture
  • Fever
  • Myopathy


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about BRODY MYOPATHY

Top 5 symptoms//phenotypes associated to Myopathy and Spastic tetraplegia

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Tetraplegia Common - Between 50% and 80% cases
Spasticity Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Optic atrophy Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Cognitive impairment

Uncommon Symptoms - Between 30% and 50% cases


Growth delay Encephalopathy Acidosis Global developmental delay Failure to thrive Dysarthria Hyperreflexia Nystagmus Ataxia Muscle weakness Developmental regression Lactic acidosis Metabolic acidosis Microcephaly Dystonia Neurodegeneration Leukoencephalopathy Cardiomyopathy Gait ataxia Dementia Feeding difficulties Coma Visual loss Hallucinations Athetosis Rigidity Aciduria Respiratory failure Abnormality of the cerebral white matter Brain atrophy Hypertrophic cardiomyopathy Apathy Myoclonus Leukodystrophy Spastic tetraparesis Short stature Blindness Confusion Hearing impairment Cerebral atrophy Muscular hypotonia Intellectual disability Unsteady gait Motor delay Dysphagia

Rare Symptoms - Less than 30% cases


Choreoathetosis Progressive neurologic deterioration Hepatomegaly Hypoglycemia Tetraparesis Chorea Spastic paraparesis Dilated cardiomyopathy Paraparesis Absent speech Ptosis Urinary incontinence Abnormality of mitochondrial metabolism Neonatal hypotonia Increased serum lactate Pigmentary retinopathy Congenital hip dislocation Exercise intolerance Babinski sign Pain Progressive leukoencephalopathy Loss of speech Generalized muscle weakness Increased intramyocellular lipid droplets Agitation Irritability Muscular hypotonia of the trunk Recurrent infections Vomiting Respiratory distress Ventriculomegaly Visual impairment Flexion contracture Respiratory insufficiency Mitochondrial myopathy Severe muscular hypotonia Abnormality of movement Delayed speech and language development Mental deterioration Muscle stiffness Limb ataxia Clumsiness Memory impairment Sensorineural hearing impairment Limb muscle weakness Aggressive behavior Personality changes Difficulty walking Cerebral cortical atrophy Hyporeflexia Diarrhea Gait disturbance Tremor Peripheral neuropathy Myotonia Progressive cerebellar ataxia Emotional lability Polydipsia Spastic hemiparesis Aminoaciduria Proximal muscle weakness Respiratory tract infection Retinopathy Ophthalmoplegia Increased hepatocellular lipid droplets Generalized myoclonic seizures Respiratory insufficiency due to muscle weakness Hepatic steatosis Congestive heart failure Mitral regurgitation Proximal renal tubular acidosis Tachypnea External ophthalmoplegia Cytochrome C oxidase-negative muscle fibers Ragged-red muscle fibers Hepatic failure Renal Fanconi syndrome Arrhythmia Decreased liver function Hypertonia Progressive muscle weakness Pulmonary arterial hypertension Status epilepticus Paraplegia Hemiparesis Neutropenia Febrile seizures Progressive visual loss Muscle cramps Short attention span Easy fatigability Skeletal myopathy Abnormality of the basal ganglia 3-Methylglutaconic aciduria Nonprogressive cerebellar ataxia Testicular dysgenesis Hyperchloremic acidosis Progressive forgetfulness Myalgia Fever Hepatic encephalopathy Microvesicular hepatic steatosis Oral-pharyngeal dysphagia Hypertension Renal tubular acidosis Poor suck Abnormal facial shape Weak cry Glycosuria Anemia Hypercalciuria Exertional dyspnea Skeletal muscle atrophy Scoliosis Generalized tonic-clonic seizures Kyphosis Dilatation Kyphoscoliosis Polyuria Proteinuria Hemiplegia Spinal muscular atrophy Apnea Strabismus Progressive encephalopathy Hip dislocation Hyperammonemia Rhabdomyolysis Ketosis Preeclampsia Respiratory arrest Ketonuria Left ventricular noncompaction Paraganglioma Thoracolumbar kyphosis Periventricular leukomalacia Thoracolumbar scoliosis Hemolytic-uremic syndrome Hyperphosphaturia Poor head control Decreased activity of mitochondrial complex II Abnormal mitochondria in muscle tissue Increased CSF lactate Renal tubular dysfunction Left ventricular systolic dysfunction Stress/infection-induced lactic acidosis Spastic paraplegia Psychomotor deterioration Severe global developmental delay Cerebral amyloid angiopathy Global brain atrophy Aphasia Neurofibrillary tangles Insomnia Impaired smooth pursuit Lewy bodies Hypomimic face Supranuclear gaze palsy Dysesthesia Perseveration Intellectual disability, mild Akinesia Neurological speech impairment Retinal degeneration Dehydration Horizontal nystagmus Drooling Restlessness Diffuse cerebral atrophy Gastrointestinal dysmotility Loss of ability to walk Abnormal mitochondrial morphology Persistent lactic acidosis Alzheimer disease Slurred speech High palate Dysmetria Cerebellar atrophy Depressivity Areflexia Weight loss Anxiety Abnormality of the eye Paralysis Abnormality of eye movement Poor speech Lower limb muscle weakness Paresthesia Hyperkinesis Parkinsonism Gliosis Hip dysplasia Bradykinesia Abnormality of extrapyramidal motor function Apraxia Psychosis Involuntary movements Chronic diarrhea Truncal ataxia Mutism Progressive choreoathetosis Intrauterine growth retardation Gastroesophageal reflux EMG: neuropathic changes Shock Schizophrenia Decreased nerve conduction velocity Toe walking Bulbar palsy Onion bulb formation Abnormality of visual evoked potentials Increased CSF protein Delusions Progressive gait ataxia Genu recurvatum Aganglionic megacolon Vegetative state Progressive peripheral neuropathy Cholecystitis EMG: chronic denervation signs Decerebrate rigidity Abnormal social behavior Punctate periventricular T2 hyperintense foci Abnormality of proteoglycan metabolism Gallbladder dysfunction Cataract Hyperactivity Frequent falls Bilateral sensorineural hearing impairment Hypoplasia of the corpus callosum Pendular nystagmus Edema Polyhydramnios Retrognathia Abnormal pyramidal sign Arthrogryposis multiplex congenita Polymicrogyria Wide intermamillary distance Hypoplasia of the brainstem Opisthotonus Episodic fever Severe lactic acidosis Optic disc pallor Primitive reflex Diffuse leukoencephalopathy Frontoparietal polymicrogyria Behavioral abnormality Reduced visual acuity Abnormality of the nervous system Feeding difficulties in infancy Pallor Polyneuropathy Abdominal distention Peripheral demyelination Myoglobinuria



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