Dysarthria, and Facial palsy

Diseases related with Dysarthria and Facial palsy

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

Top matches:

PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 3; PEOB3 Is also known as progressive external ophthalmoplegia, autosomal recessive 3

Related symptoms:

  • Muscle weakness
  • Ptosis
  • Dysarthria
  • Skeletal muscle atrophy
  • Dysphagia


SOURCES: OMIM MENDELIAN

More info about PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 3; PEOB3

OCULOPHARYNGEAL MUSCULAR DYSTROPHY; OPMD Is also known as muscular dystrophy, oculopharyngeal

Related symptoms:

  • Muscle weakness
  • Ptosis
  • Dysarthria
  • Skeletal muscle atrophy
  • Gait disturbance


SOURCES: OMIM MENDELIAN

More info about OCULOPHARYNGEAL MUSCULAR DYSTROPHY; OPMD

Other less relevant matches:

Early onset torsion dystonia (EOTD) is a rare movement disorder characterized by involuntary, repetitive, sustained muscle contractions or postures involving one or more sites of the body.

EARLY-ONSET GENERALIZED LIMB-ONSET DYSTONIA Is also known as eotd|dystonia musculorum deformans 1|early-onset primary dystonia|dyt1|dystonia musculorum deformans|idiopathic torsion dystonia|early-onset generalized torsion dystonia|idiopathic dystonia|oppenheim dystonia|early-onset torsion dystonia

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscular hypotonia
  • Flexion contracture
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about EARLY-ONSET GENERALIZED LIMB-ONSET DYSTONIA

MYASTHENIC SYNDROME, CONGENITAL, 22; CMS22 Is also known as prepl deficiency

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Muscle weakness
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 22; CMS22

Combined oxidative phosphorylation defect type 7 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by a variable phenotype that includes onset in infancy or early childhood of failure to thrive and psychomotor regression (after initial normal development), as well as ocular manifestations (such as ptosis, nystagmus, optic atrophy, ophthalmoplegia and reduced vision). Additional manifestations include bulbar paresis with facial weakness, hypotonia, difficulty chewing, dysphagia, mild dysarthria, ataxia, global muscle atrophy, and areflexia. It has a relatively slow disease progression with patients often living into the third decade of life.

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 7 Is also known as severe c12orf65-related combined oxidative phosphorylation defect|severe c12orf65-related coxpd|coxpd7

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 7

Charcot-Marie-Tooth disease type 4B3 (CMT4B3) is a subtype of Charcot-Marie-Tooth type 4 characterized by a childhood onset of slowly progressing, demyelinating sensorimotor neuropathy, focally folded myelin sheaths in nerve biopsy, reduced nerve conduction velocities (less than 38 m/s), and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, and sensory loss).

CHARCOT-MARIE-TOOTH DISEASE TYPE 4B3 Is also known as charcot-marie-tooth disease with focally folded myelin|cmt4b3

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Scoliosis
  • Ataxia
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE TYPE 4B3

LEUKODYSTROPHY, HYPOMYELINATING, 2; HLD2 Is also known as pelizaeus-merzbacher-like disease, 1|pmld1

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about LEUKODYSTROPHY, HYPOMYELINATING, 2; HLD2

Autosomal dominant limb-girdle muscular dystrophy type 1D (LGMD1D) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult-onset of slowly progressive, proximal pelvic girdle weakness, with none, or only minimal, shoulder girdle involvement, and absence of cardiac and respiratory symptoms. Mild to moderate elevated creatine kinase serum levels and gait abnormalities are frequently observed.

AUTOSOMAL DOMINANT LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1D Is also known as lgmd1d|lgmd1e|muscular dystrophy, limb-girdle, type 1d, formerly|muscular dystrophy, limb-girdle, type 1e|lgmd1d, formerly

Related symptoms:

  • Muscle weakness
  • Flexion contracture
  • Dysarthria
  • Dysphagia
  • Myopathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1D

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

Top 5 symptoms//phenotypes associated to Dysarthria and Facial palsy

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Dysphagia Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Ptosis Uncommon - Between 30% and 50% cases
Ataxia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Dysarthria and Facial palsy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Ophthalmoplegia Dystonia Nystagmus Global developmental delay Muscle weakness External ophthalmoplegia Rigidity Cerebral atrophy Skeletal muscle atrophy Hypertonia Myopathy Elevated serum creatine phosphokinase Proximal muscle weakness Babinski sign Flexion contracture Seizures Gait disturbance Areflexia Limb muscle weakness

Rare Symptoms - Less than 30% cases

Hyperreflexia Tremor Scoliosis Myositis Peripheral neuropathy Motor delay Craniofacial dystonia Gait ataxia Waddling gait Optic atrophy Bilateral ptosis Muscular hypotonia of the trunk Lower limb muscle weakness Distal sensory impairment Polyneuropathy Cognitive impairment Rimmed vacuoles Strabismus Mitochondrial myopathy Spasticity Generalized muscle weakness Increased serum lactate Developmental regression Muscular dystrophy Progressive proximal muscle weakness Distal muscle weakness Loss of speech Choreoathetosis Limb-girdle muscular dystrophy Gowers sign Increased variability in muscle fiber diameter Calf muscle hypertrophy Bulbar palsy Difficulty climbing stairs Foot dorsiflexor weakness Spinal canal stenosis Bulbar signs Shoulder girdle muscle weakness Myofibrillar myopathy Muscle fiber splitting Dysphonia Pigmentary retinopathy Dyspnea Pes cavus Demyelinating motor neuropathy Loss of ability to walk Head titubation Cerebral hypomyelination Rotary nystagmus Pendular nystagmus Congenital nystagmus Progressive spasticity Sensory axonal neuropathy Decreased motor nerve conduction velocity CNS hypomyelination Spastic paraparesis Leukodystrophy Pelvic girdle muscle weakness Percussion myotonia Autophagic vacuoles Mutism Focal-onset seizure Generalized-onset seizure Status epilepticus Tetraparesis Progressive neurologic deterioration Paraparesis Focal impaired awareness seizure Neurodegeneration Abnormality of mitochondrial metabolism Atrophy/Degeneration affecting the brainstem Morphological abnormality of the pyramidal tract Abnormality of the basal ganglia Cogwheel rigidity Acute encephalopathy Coma Inability to walk Abnormality of muscle fibers Respiratory insufficiency Fatty replacement of skeletal muscle Peripheral demyelination Weakness of the intrinsic hand muscles Hyposegmentation of neutrophil nuclei Skeletal muscle fibrosis Fever Intellectual disability, mild Confusion Encephalopathy Respiratory failure Abnormality of the nervous system Irritability Paralysis Abnormal pyramidal sign Intention tremor Onion bulb formation Sensory neuropathy Torticollis Absent speech Abnormal posturing Writer's cramp Oromandibular dystonia Torsion dystonia Focal dystonia Absent Achilles reflex Action tremor Generalized dystonia Blepharospasm Bipolar affective disorder Abnormality of the musculature Multiple joint contractures Abnormality of the voice Involuntary movements Feeding difficulties Abnormality of movement Hyperlordosis Dysmetria Depressivity Kyphosis Generalized myoclonic seizures Esotropia Corpus callosum atrophy Muscular hypotonia Progressive ptosis Neck muscle weakness Retinal degeneration Mask-like facies Ophthalmoparesis Short stature Cerebellar atrophy Poor speech Paralytic ileus Intellectual disability, moderate Myopia Progressive muscle weakness Decreased nerve conduction velocity Sensory impairment Urinary incontinence Brain atrophy Scapular winging Pes planus Ragged-red muscle fibers Glaucoma Syndactyly Pain Microcephaly Ileus Hypogonadism Increased CSF lactate Facial diplegia Progressive external ophthalmoplegia Decreased activity of mitochondrial respiratory chain Abnormal facial shape Visual impairment Failure to thrive Cystinuria Tented upper lip vermilion Hypergonadotropic hypogonadism Narrow forehead Delayed speech and language development Growth hormone deficiency Neonatal hypotonia Focal motor seizures


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Abnormality of the skeletal system and Alzheimer disease, related diseases and genetic alterations