Muscle weakness, and Progressive neurologic deterioration

Diseases related with Muscle weakness and Progressive neurologic deterioration

In the following list you will find some of the most common rare diseases related to Muscle weakness and Progressive neurologic deterioration that can help you solving undiagnosed cases.


Top matches:

Medium match BENIGN FAMILIAL NEONATAL EPILEPSY


Benign familial neonatal epilepsy (BFNE) is a rare genetic epilepsy syndrome characterized by the occurrence of afebrile seizures in otherwise healthy newborns with onset in the first few days of life.

BENIGN FAMILIAL NEONATAL EPILEPSY Is also known as bfns|benign familial neonatal convulsions|benign familial neonatal seizures

Related symptoms:

  • Seizures
  • Cognitive impairment
  • Hypertonia


SOURCES: ORPHANET MENDELIAN

More info about BENIGN FAMILIAL NEONATAL EPILEPSY

Low match LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT-HIGH LACTATE SYNDROME


This disease is characterised by progressive cerebellar ataxia with pyramidal and spinal cord dysfunction, associated with distinctive MRI anomalies and increased lactate in the abnormal white matter.

LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT-HIGH LACTATE SYNDROME Is also known as mitochondrial aspartyl-trna synthetase deficiency|leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome|lbsl

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Nystagmus


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT-HIGH LACTATE SYNDROME

Low match MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8; MC3DN8


Mitochondrial complex III deficiency, nuclear type 8, is an autosomal recessive disorder characterized by progressive neurodegeneration with onset in childhood. Affected individuals may have normal or delayed early development, and often have episodic acute neurologic decompensation and regression associated with febrile illnesses. The developmental regression results in variable intellectual disability and motor deficits, such as hypotonia, axial hypertonia, and spasticity; some patients may lose the ability to walk independently. Laboratory studies show increased serum lactate and isolated deficiency of mitochondrial complex III in skeletal muscle and fibroblasts. Brain imaging shows a characteristic pattern of multifocal small cystic lesions in the periventricular and deep cerebral white matter (summary by Dallabona et al., 2016).For a discussion of genetic heterogeneity of mitochondrial complex III deficiency, see MC3DN1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8; MC3DN8

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Other less relevant matches:

Low match BIOTIN-THIAMINE-RESPONSIVE BASAL GANGLIA DISEASE


Thiamine metabolism dysfunction syndrome-2 is an autosomal recessive metabolic disorder characterized by episodic encephalopathy, often triggered by febrile illness, presenting as confusion, seizures, external ophthalmoplegia, dysphagia, and sometimes coma and death. Administration of high doses of biotin, and sometimes thiamine, during these crises results in partial or complete improvement within days. If untreated, encephalopathies can result in permanent dystonia. Brain imaging may show characteristic bilateral lesions of the basal ganglia. It is not known why biotin administration results in clinical improvement, as the molecular basis of the disorder is mutation in a gene encoding a thiamine transporter. However, biotin may increase the gene expression of SLC19A3 (summary by Debs et al., 2010).For a discussion of genetic heterogeneity of disorders due to thiamine metabolism dysfunction, see THMD1 (OMIM ).

BIOTIN-THIAMINE-RESPONSIVE BASAL GANGLIA DISEASE Is also known as btbgd|basal ganglia disease, biotin-responsive|biotin-responsive basal ganglia disease|bbgd|encephalopathy, thiamine-responsive

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about BIOTIN-THIAMINE-RESPONSIVE BASAL GANGLIA DISEASE

Low match ADULT-ONSET DISTAL MYOPATHY DUE TO VCP MUTATION


Adult-onset distal myopathy due to VCP mutation is a rare, genetic distal myopathy disorder characterized by middle age-onset of distal leg muscle weakness, atrophy in the anterior compartment resulting in foot drop, without proximal or scapular skeletal muscle weakness. Rapidly progressive dementia, Paget disease of bone and hand weakness have been reported. Muscle biopsy shows pronounced myopathic changes with rimmed vacuoles.

Related symptoms:


SOURCES: ORPHANET MENDELIAN

More info about ADULT-ONSET DISTAL MYOPATHY DUE TO VCP MUTATION

Low match MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM WITH RENAL TUBULOPATHY


Mitochondrial DNA depletion syndrome-8A is a severe autosomal recessive disorder characterized by neonatal hypotonia, lactic acidosis, and neurologic deterioration. Renal tubular involvement may also occur (Bourdon et al., 2007).Mitochondrial DNA depletion syndrome-8B is characterized by ophthalmoplegia, ptosis, gastrointestinal dysmotility, cachexia, peripheral neuropathy, and brain MRI changes, known as the MNGIE phenotype (Shaibani et al., 2009).For a discussion of genetic heterogeneity of mtDNA depletion syndromes, see MTDPS1 (OMIM ).

MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM WITH RENAL TUBULOPATHY Is also known as mitochondrial dna depletion syndrome, encephalomyopathic, with renal tubulopathy, autosomal recessive|mtdna depletion syndrome, encephalomyopathic form with renal tubulopathy

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM WITH RENAL TUBULOPATHY

Low match DOPA-RESPONSIVE DYSTONIA DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY


Dopa-responsive dystonia (DRD) due to sepiapterin reductase deficiency (SRD) is a very rare neurometabolic disorder characterized by dystonia with diurnal fluctuations, axial hypotonia, oculogyric crises, and delays in motor and cognitive development.

DOPA-RESPONSIVE DYSTONIA DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY Is also known as srd|spr deficiency|drd due to srd|sepiapterin reductase deficiency|autosomal recessive sepiapterin reductase-deficient drd

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about DOPA-RESPONSIVE DYSTONIA DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY

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 AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 35


Autosomal recessive spastic paraplegia type 35 is a rare form of hereditary spastic paraplegia characterized by childhood (exceptionally adolescent) onset of a complex phenotype presenting with lower limb (followed by upper limb) spasticity with hyperreflexia and extensor plantar responses, with additional manifestations including progressive dysarthria, dystonia, mild cognitive decline, extrapyramidal features, optic atrophy and seizures. White matter abnormalities and brain iron accumulation have also been observed on brain magnetic resonance imaging.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 35 Is also known as fatty acid hydroxylase-associated neurodegeneration|leukodystrophy, dysmyelinating, and spastic paraparesis with or without dystonia|fahn|spg35

Related symptoms:

  • Intellectual disability
  • Seizures
  • Scoliosis
  • Ataxia
  • Nystagmus


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 35

Low match PONTOCEREBELLAR HYPOPLASIA, TYPE 11; PCH11


PCH11 is an autosomal recessive neurodevelopmental disorder characterized by severely delayed psychomotor development with intellectual disability and poor speech, microcephaly, dysmorphic features, and pontocerebellar hypoplasia on brain imaging. Additional features are more variable (summary by Marin-Valencia et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA, TYPE 11; PCH11

Top 5 symptoms//phenotypes associated to Muscle weakness and Progressive neurologic deterioration

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Dysarthria Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Muscle weakness and Progressive neurologic deterioration. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Hypertonia

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Hyperreflexia Spasticity Dystonia Nystagmus Ophthalmoplegia Babinski sign Cognitive impairment External ophthalmoplegia Hypoplasia of the corpus callosum Cerebral atrophy Respiratory failure Gait disturbance Encephalopathy Ptosis Acidosis Irritability Lactic acidosis Tetraparesis Respiratory insufficiency Abnormality of the nervous system Muscular hypotonia of the trunk Failure to thrive Neurodegeneration Mental deterioration Skeletal muscle atrophy Peripheral neuropathy Delayed speech and language development Unsteady gait Poor speech Gait ataxia

Rare Symptoms - Less than 30% cases


Generalized dystonia Dysphagia Rigidity Clonus Abnormal pyramidal sign Inability to walk Apraxia Strabismus Paraparesis Abnormality of the periventricular white matter Atrophy/Degeneration affecting the brainstem Difficulty walking Hyperactivity Hyperhidrosis Hearing impairment Feeding difficulties Talipes equinovarus Growth delay Microcephaly Fever Motor delay Generalized muscle weakness Leukoencephalopathy Oculomotor apraxia Intellectual disability, severe Hyporeflexia Truncal ataxia Increased serum lactate Abnormality of the cerebral white matter Tremor Spastic tetraparesis Dysmetria Hypoglycemia Aciduria Falls Lower limb muscle weakness Sensory neuropathy Obesity Paraplegia Cardiomyopathy Spastic paraplegia Abnormal cerebellum morphology Muscular hypotonia Metabolic acidosis Methylmalonic aciduria Cerebral cortical atrophy Episodic metabolic acidosis Severe lactic acidosis Necrotizing encephalopathy Muscle fibrillation Severe global developmental delay Poor motor coordination Hypophosphatemia Urinary incontinence Kyphosis Renal aminoaciduria Intermittent hyperpnea at rest Scoliosis Shock Abnormality of the skin Optic atrophy Cerebellar atrophy Positional foot deformity Peripheral demyelination Anal atresia Agenesis of corpus callosum Recurrent respiratory infections Respiratory tract infection Protruding ear Coloboma Attention deficit hyperactivity disorder Hypermetropia Talipes Bulbous nose Dysmyelinating leukodystrophy Esotropia Dandy-Walker malformation Broad-based gait Stereotypy Limb ataxia Molar tooth sign on MRI Poor eye contact Poor coordination Impaired social interactions Iron accumulation in globus pallidus Hyperphenylalaninemia Frequent falls Ankle clonus Lower limb spasticity Leukodystrophy Foot dorsiflexor weakness Spastic paraparesis Dysdiadochokinesis Mask-like facies Sensory axonal neuropathy Bowel incontinence Urinary urgency Progressive spasticity Motor neuron atrophy Neck muscle weakness Corpus callosum atrophy Enuresis Upper limb spasticity Progressive spastic paraparesis Pollakisuria Lower limb hypertonia Pontocerebellar atrophy Enuresis nocturna Transient hyperphenylalaninemia Aggressive behavior Temperature instability Loss of speech Focal-onset seizure Generalized-onset seizure Status epilepticus Mutism Bilateral ptosis Focal impaired awareness seizure Abnormality of mitochondrial metabolism Morphological abnormality of the pyramidal tract Confusion Abnormality of the basal ganglia Cogwheel rigidity Acute encephalopathy Craniofacial dystonia Focal motor seizures Sensorineural hearing impairment Vomiting Areflexia Coma Paralysis Neonatal hypotonia Anemia Flexion contracture Peripheral axonal neuropathy Progressive cerebellar ataxia Clumsiness Slurred speech Episodic ataxia Sensory ataxia Dyspnea Facial palsy Developmental regression Lethargy Optic disc pallor Exotropia Failure to thrive in infancy Stridor Brisk reflexes Intellectual disability, mild Weight loss Nausea and vomiting Oculogyric crisis Athetosis Horizontal nystagmus Muscle stiffness Abnormal autonomic nervous system physiology Cerebral palsy Drooling Hyperkinesis Postural tremor Agitation Choreoathetosis Drowsiness Limb hypertonia Hypomimic face Abnormality of the nose Excessive salivation Abnormality of the tongue Hypersomnia Excessive daytime sleepiness Involuntary movements Abnormality of extrapyramidal motor function Nausea Pain Polyneuropathy Progressive muscle weakness Aminoaciduria Ragged-red muscle fibers Cachexia Gastrointestinal dysmotility Proximal tubulopathy Behavioral abnormality Bradykinesia Myoclonus Anxiety Small for gestational age Abnormality of eye movement Abnormality of movement Dyskinesia Sleep disturbance Parkinsonism Happy demeanor



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