Dysarthria, and Feeding difficulties

Diseases related with Dysarthria and Feeding difficulties

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

Top matches:

Primary dystonia DYT2 type is characterized by segmental dystonia that manifests with involuntary posturing affecting predominantly the feet.

PRIMARY DYSTONIA, DYT2 TYPE Is also known as dyt2|dystonia musculorum deformans 2

Related symptoms:

  • Feeding difficulties
  • Delayed speech and language development
  • Dysarthria
  • Tremor
  • Gait disturbance


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PRIMARY DYSTONIA, DYT2 TYPE

Infantile-onset limb and orofacial dyskinesia is an autosomal recessive neurologic disorder characterized by delayed motor development and onset of a hyperkinetic movement disorder in the first year of life. The disorder results in impaired walking and orofacial dyskinesia with difficulty talking; the severity is variable (summary by Diggle et al., 2016).

INFANTILE-ONSET GENERALIZED DYSKINESIA WITH OROFACIAL INVOLVEMENT Is also known as infantile-onset orofacial-trunk-limbs dyskinesia

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Muscle weakness
  • Feeding difficulties
  • Motor delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about INFANTILE-ONSET GENERALIZED DYSKINESIA WITH OROFACIAL INVOLVEMENT

Hypomyelinating leukodystrophy-16 is an autosomal dominant neurologic disorder characterized by onset of hypotonia, nystagmus, and mildly delayed motor development in infancy. Affected individuals have motor disabilities, including ataxic or broad-based gait, hyperreflexia, intention tremor, dysmetria, and a mild pyramidal syndrome. Some patients have cognitive impairment, whereas others may have normal cognition or mild intellectual disability with speech difficulties. Brain imaging typically shows hypomyelination, leukodystrophy, and thin corpus callosum (summary by Simons et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of hypomyelinating leukodystrophy, see {312080}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LEUKODYSTROPHY, HYPOMYELINATING, 16; HLD16

Other less relevant matches:

Congenital myasthenic syndromes (CMS) are a group of inherited disorders affecting the neuromuscular junction. Patients present clinically with onset of variable muscle weakness between infancy and adulthood. These disorders have been classified according to the location of the defect: presynaptic, synaptic, and postsynaptic. Endplate acetylcholinesterase deficiency is an autosomal recessive congenital myasthenic syndrome characterized by a defect within the synapse at the neuromuscular junction (NMJ). Mutations in COLQ result in a deficiency of acetylcholinesterase (AChE), which causes prolonged synaptic currents and action potentials due to extended residence of acetylcholine in the synaptic space. Treatment with ephedrine may be beneficial; AChE inhibitors and amifampridine should be avoided (summary by Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

MYASTHENIC SYNDROME, CONGENITAL, 5; CMS5 Is also known as endplate acetylcholinesterase deficiency|ead|cms1c, formerly|engel congenital myasthenic syndrome|cms ic, formerly|congenital myasthenic syndrome type ic, formerly|myasthenic syndrome, congenital, engel type

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Muscular hypotonia
  • Ptosis


SOURCES: MESH OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 5; CMS5

Congenital myasthenic syndromes (CMS) are a group of inherited disorders affecting the neuromuscular junction (NMJ). Patients present clinically with onset of variable muscle weakness between infancy and adulthood. These disorders have been classified according to the location of the defect: presynaptic, synaptic, and postsynaptic, as well as by pathologic mechanism and electrophysiologic studies (i.e., acetylcholine receptor (AChR) deficiency, slow-channel or fast-channel kinetic defects at the AChR) (summary by Engel et al., 2003; Engel et al., 2015). Approximately 10% of CMS cases are presynaptic, 15% are synaptic, and 75% are postsynaptic, the majority of which are caused by AChR deficiency (Engel et al., 2003).Slow-channel congenital myasthenic syndrome (SCCMS) is a disorder of the postsynaptic NMJ characterized by early-onset progressive muscle weakness. The disorder results from kinetic abnormalities of the AChR channel, specifically prolonged opening and activity of the channel, which causes prolonged synaptic currents resulting in a depolarization block. This is associated with calcium overload, which may contribute to subsequent degeneration of the endplate and postsynaptic membrane. Treatment with quinine, quinidine, or fluoxetine may be helpful; acetylcholinesterase inhibitors and amifampridine should be avoided (summary by Engel et al., 2015). Genetic Heterogeneity of Congenital Myasthenic SyndromesRecessive mutations in subunits of the acetylcholine receptor are the most common cause of CMS (Harper, 2004). CMS1A and CMS1B (OMIM ) are caused by mutation in the CHRNA1 gene (OMIM ); CMS2A (OMIM ) and CMS2C (OMIM ) are caused by mutation in the CHRNB1 gene (OMIM ) on 17p12; CMS3A (OMIM ), CMS3B (OMIM ), and CMS3C (OMIM ) are caused by mutation in the CHRND gene (OMIM ) on 2q33; and CMS4A (OMIM ), CMS4B (OMIM ), and CMS4C (OMIM ) are caused by mutation in the CHRNE gene (OMIM ) on 17p13.CMS5 (OMIM ) is caused by mutation in the COLQ gene (OMIM ) on 3p25; CMS6 (OMIM ) is caused by mutation in the CHAT gene (OMIM ) on 10q; CMS7 (OMIM ) is caused by mutation in the SYT2 gene (OMIM ) on 1q32; CMS8 (OMIM ) is caused by mutation in the AGRN gene (OMIM ) on 1p; CMS9 (OMIM ) is caused by mutation in the MUSK gene (OMIM ) on 9q31; CMS10 (OMIM ) is caused by mutation in the DOK7 gene (OMIM ) on 4p; CMS11 (OMIM ) is caused by mutation in the RAPSN gene (OMIM ) on 11p11; CMS12 (OMIM ) is caused by mutation in the GFPT1 gene (OMIM ) on 2p14; CMS13 (OMIM ) is caused by mutation in the DPAGT1 gene (OMIM ) on 11q23; CMS14 (OMIM ) is caused by mutation in the ALG2 gene (OMIM ) on 9q22; CMS15 (OMIM ) is caused by mutation in the ALG14 gene (OMIM ) on 1p21; CMS16 (OMIM ) is caused by mutation in the SCN4A gene (OMIM ) on 17q; CMS17 (OMIM ) is caused by mutation in the LRP4 gene (OMIM ) on 11p12; CMS18 (OMIM ) is caused by mutation in the SNAP25 gene (OMIM ) on 20p11; CMS19 (OMIM ) is caused by mutation in the COL13A1 gene (OMIM ) on 10q22; CMS20 (OMIM ) is caused by mutation in the SLC5A7 gene (OMIM ) on 2q12; CMS21 (OMIM ) is caused by mutation in the SLC18A3 gene (OMIM ) on 10q11; and CMS22 (OMIM ) is caused by mutation in the PREPL gene (OMIM ) on 2p21.

MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL; CMS1A Is also known as cms iia, formerly|myasthenic syndrome, congenital, type iia, formerly|cms2a, formerly

Related symptoms:

  • Scoliosis
  • Muscle weakness
  • Ptosis
  • High palate
  • Feeding difficulties


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL; CMS1A

X-linked reticulate pigmentary disorder is an extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmentated skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature.

X-LINKED RETICULATE PIGMENTARY DISORDER Is also known as familial cutaneous amyloidosis|mental retardation, x-linked, with dystonic movements, ataxia, and seizures|pdr|mental retardation, x-linked, syndromic 1|x-linked cutaneous amyloidosis|xlpdr|mrx36|partington syndrome|partington disease|mrxs1|mental retarda

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hypertelorism
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED RETICULATE PIGMENTARY DISORDER

PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5; PEOB5 Is also known as progressive external ophthalmoplegia, autosomal recessive 5

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Muscle weakness
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5; PEOB5

HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B; HPABH4B Is also known as gtp cyclohydrolase i deficiency|hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to gtp cyclohydrolase i deficiency

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B; HPABH4B

Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD) to progressive infantile encephalopathy.

AUTOSOMAL RECESSIVE DOPA-RESPONSIVE DYSTONIA Is also known as tyrosine hydroxylase-deficient dopa-responsive dystonia|dyt5b|dopa-responsive dystonia, autosomal recessive|tyrosine hydroxylase deficiency|dystonia, dopa-responsive, autosomal recessive|parkinsonism, infantile, autosomal recessive|autosomal recessive seg

Related symptoms:

  • Generalized hypotonia
  • Ataxia
  • Ptosis
  • Feeding difficulties
  • Delayed speech and language development


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE DOPA-RESPONSIVE DYSTONIA

Top 5 symptoms//phenotypes associated to Dysarthria and Feeding difficulties

Symptoms // Phenotype % cases
Tremor Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Dysphagia Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Delayed speech and language development Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Dysarthria and Feeding difficulties. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Ptosis Dystonia Global developmental delay Motor delay Limb dystonia Muscle weakness Intellectual disability Drooling Muscular hypotonia of the trunk Broad-based gait Spasticity Rigidity Hyperreflexia Hypertonia Babinski sign Encephalopathy

Rare Symptoms - Less than 30% cases

Hypokinesia Muscular hypotonia Scoliosis Opisthotonus Limb muscle weakness Generalized muscle weakness Ophthalmoparesis Irritability Bradykinesia Fatigable weakness Type 2 muscle fiber atrophy Parkinsonism Decreased size of nerve terminals Prolonged miniature endplate currents Lethargy Ophthalmoplegia Hyperhidrosis Constipation Fever Severe muscular hypotonia Focal dystonia Ataxia Excessive salivation Myopathy Dysmetria Nasogastric tube feeding in infancy Torticollis Hyperkinesis Difficulty walking Myoclonus Gait disturbance Involuntary movements Abnormality of movement Cognitive impairment Hypoplasia of the corpus callosum Gait ataxia Generalized dystonia Oculogyric crisis Intention tremor Parkinsonism with favorable response to dopaminergic medication Night sweats Strabismus Abnormal CNS myelination Fatigue Progressive spasticity Postnatal microcephaly Spastic paraplegia Hypotelorism Narrow forehead Febrile seizures Generalized tonic-clonic seizures Progressive encephalopathy Absent speech Low-set ears Failure to thrive Microcephaly Progressive ptosis Upper limb dysmetria Nasal regurgitation Behavioral abnormality Anxiety Depressivity Progressive neurologic deterioration Limb hypertonia Episodic fever Hyperphenylalaninemia Left ventricular failure Impulsivity Obsessive-compulsive behavior Talipes equinovarus Respiratory distress Poor suck Intellectual disability, progressive Choreoathetosis Intellectual disability, mild Central hypotonia Cerebral atrophy Pes cavus Abnormality of extrapyramidal motor function Postural tremor Postural instability Abnormality of eye movement Mask-like facies Brisk reflexes Abnormality of the eye Infantile encephalopathy Hyperactivity Lower limb hyperreflexia Limb dysmetria Wide mouth Progressive external ophthalmoplegia Abnormality of the nervous system Weak cry Abnormality of the immune system Decreased muscle mass Easy fatigability Respiratory insufficiency due to muscle weakness Hyperlordosis Feeding difficulties in infancy Hyporeflexia Respiratory insufficiency Rotary nystagmus CNS hypomyelination Leukodystrophy Abnormal pyramidal sign Nystagmus High palate Hemiballismus Orofacial dyskinesia Frequent falls Focal-onset seizure Brain atrophy Chorea Dyskinesia Falls Unsteady gait Facial grimacing Oromandibular dystonia Torsion dystonia Blepharospasm Mutism EMG: decremental response of compound muscle action potential to repetitive nerve stimulation Skeletal muscle atrophy Neck muscle weakness Cogwheel rigidity Ragged-red muscle fibers External ophthalmoplegia Exercise intolerance Diplopia Sensory neuropathy Tachycardia Arrhythmia Cerebellar atrophy Peripheral neuropathy Sensorineural hearing impairment Hearing impairment Grasp reflex Stuttering Hydranencephaly Infantile spasms Pectus carinatum Lissencephaly Lower limb spasticity Short palpebral fissure Triangular face Intellectual disability, moderate EEG abnormality Flexion contracture Abnormal facial shape Hypertelorism Intermittent episodes of respiratory insufficiency due to muscle weakness Hand muscle atrophy Difficulty climbing stairs Progressive muscle weakness Lower limb muscle weakness Decreased CSF homovanillic acid


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