Dysarthria, and Limb-girdle muscular dystrophy

Diseases related with Dysarthria and Limb-girdle muscular dystrophy

In the following list you will find some of the most common rare diseases related to Dysarthria and Limb-girdle muscular dystrophy that can help you solving undiagnosed cases.


Top matches:

High match AUTOSOMAL DOMINANT LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1F


Autosomal dominant limb-girdle muscular dystrophy type 1F (LGMD1F) is a subtype of autosomal dominant limb-girdle muscular dystrophy ,with a variable age of onset, characterized by progressive, proximal weakness and wasting of the shoulder and pelvic musculature (with the pelvic girdle, and especially the ileopsoas muscle, being more affected) and frequent association of calf hypertrophy, dysphagia, arachnodactyly with or without finger contractures and/or distal and axial muscle involvement. Additional features include an abnormal gait, exercise intolerance, myalgia, fatigue and respiratory insufficiency. Cardiac conduction defects are typically not observed.

AUTOSOMAL DOMINANT LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1F Is also known as lgmd1f|muscular dystrophy, limb-girdle, type 1f

Related symptoms:

  • Muscle weakness
  • Flexion contracture
  • Dysarthria
  • Skeletal muscle atrophy
  • Respiratory insufficiency


SOURCES: OMIM ORPHANET MESH MENDELIAN

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

High match DISTAL MYOTILINOPATHY


Distal myotilinopathy is a rare, late adult-onset myofibrillar myopathy characterized by progressive distal muscle weakness associated with peripheral neuropathy and hyporeflexia. Ambulation may be lost within a few years.

DISTAL MYOTILINOPATHY Is also known as muscular dystrophy, limb-girdle, type 1, formerly|lgmd1, formerly|lgmd1a, formerly|myopathy, myofibrillar, myotilin-related|muscular dystrophy, limb-girdle, type 1a, formerly|myotilinopathy

Related symptoms:

  • Muscle weakness
  • Flexion contracture
  • Peripheral neuropathy
  • Dysarthria
  • Dysphagia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DISTAL MYOTILINOPATHY

High match AUTOSOMAL DOMINANT LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1D


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

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Other less relevant matches:

High match SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1


Kennedy disease is an X-linked recessive form of spinal muscular atrophy. It occurs only in men. Age at onset is usually in the third to fifth decade of life, but earlier involvement has been reported. The disorder is characterized by slowly progressive limb and bulbar muscle weakness with fasciculations, muscle atrophy, and gynecomastia (Harding et al., 1982). The disorder is clinically similar to, but genetically distinct from, classic forms of autosomal spinal muscular atrophy (see, e.g., SMA1; {253300}).

SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1 Is also known as kd|bulbospinal neuronopathy, x-linked recessive|xbsn|spinal and bulbar muscular atrophy|kennedy disease|bulbospinal muscular atrophy, x-linked|sbma|kennedy spinal and bulbar muscular atrophy

Related symptoms:

  • Ataxia
  • Muscle weakness
  • Muscular hypotonia
  • Pain
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1

High match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2S


Autosomal recessive limb-girdle muscular dystrophy type 2S (LGMD2S) is a form of limb-girdle muscular dystrophy characterized by childhood-onset of progressive proximal muscle weakness (leading to reduced ambulation) with myalgia and fatigue, in addition to infantile hyperkinetic movements, truncal ataxia, and intellectual disability. Additional manifestations include scoliosis, hip dysplasia, and less commonly, ocular features (e.g. myopia, cataract) and seizures.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2S Is also known as muscular dystrophy, limb-girdle, type 2s|lgmd2s

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2S

Medium match OCULOPHARYNGEAL MUSCULAR DYSTROPHY; OPMD


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

Medium 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

Medium match MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY


Mitochondrial NeuroGastroIntestinal Encephalomyopathy (MNGIE) syndrome is characterized by the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leukoencephalopathy.

MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY Is also known as myoneurogastrointestinal encephalopathy syndrome|polip syndrome|mitochondrial neurogastrointestinal encephalopathy syndrome, tymp-related|polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudoobstruction|mngie|mngie, tymp-related

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY

Medium match MITOCHONDRIAL DNA DEPLETION SYNDROME, MYOPATHIC FORM


Myopathic mitochondrial DNA (mtDNA) depletion syndrome is one of the main forms of mtDNA depletion syndrome (see this term) that displays a broad phenotypic spectrum but that is most often characterized by hypotonia, proximal muscle weakness, facial and bulbar weakness and failure to thrive.

MITOCHONDRIAL DNA DEPLETION SYNDROME, MYOPATHIC FORM Is also known as mtdna depletion syndrome, myopathic form|mitochondrial dna depletion myopathy, tk2-related

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Muscle weakness
  • Muscular hypotonia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MITOCHONDRIAL DNA DEPLETION SYNDROME, MYOPATHIC FORM

Medium match NEMALINE MYOPATHY 2; NEM2


Nemaline myopathy-2 is an autosomal recessive skeletal muscle disorder with a wide range of severity. The most common clinical presentation is early-onset (in infancy or childhood) muscle weakness predominantly affecting proximal limb muscles. Muscle biopsy shows accumulation of Z-disc and thin filament proteins into aggregates named 'nemaline bodies' or 'nemaline rods,' usually accompanied by disorganization of the muscle Z discs. The clinical and histologic spectrum of entities caused by variants in the NEB gene is a continuum, ranging in severity from the severe form with perinatal onset and fetal death to milder forms with later onset. The distribution of weakness can vary from generalized muscle weakness, more pronounced in proximal limb muscles, to distal-only involvement, although neck flexor weakness appears to be rather consistent. Histologic patterns range from a severe usually nondystrophic disturbance of the myofibrillar pattern to an almost normal pattern, with or without nemaline bodies, sometimes combined with cores (summary by Lehtokari et al., 2014).For a discussion of genetic heterogeneity of nemaline myopathy, see NEM3 (OMIM ).Mutations in the NEB gene are the most common cause of nemaline myopathy (Lehtokari et al., 2006).

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism
  • Muscle weakness
  • Cleft palate


SOURCES: OMIM MESH MENDELIAN

More info about NEMALINE MYOPATHY 2; NEM2

Top 5 symptoms//phenotypes associated to Dysarthria and Limb-girdle muscular dystrophy

Symptoms // Phenotype % cases
Muscle weakness Very Common - Between 80% and 100% cases
Myopathy Very Common - Between 80% and 100% cases
Muscular dystrophy Very Common - Between 80% and 100% cases
Proximal muscle weakness Very Common - Between 80% and 100% cases
Elevated serum creatine phosphokinase Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Dysarthria and Limb-girdle muscular dystrophy. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Limb muscle weakness

Uncommon Symptoms - Between 30% and 50% cases


Distal muscle weakness

Common Symptoms - More than 50% cases


Dysphagia

Uncommon Symptoms - Between 30% and 50% cases


Areflexia

Common Symptoms - More than 50% cases


Skeletal muscle atrophy

Uncommon Symptoms - Between 30% and 50% cases


Flexion contracture Waddling gait Pneumonia Peripheral neuropathy Generalized muscle weakness Facial palsy Hyporeflexia Respiratory insufficiency Bulbar palsy Gowers sign Foot dorsiflexor weakness Pain Gait disturbance External ophthalmoplegia Ophthalmoplegia Myalgia Ptosis Seizures Generalized hypotonia Mitochondrial myopathy Ataxia Hyperlordosis Autophagic vacuoles Scapular winging Respiratory insufficiency due to muscle weakness Ragged-red muscle fibers EMG: myopathic abnormalities Calf muscle hypertrophy Rimmed vacuoles

Rare Symptoms - Less than 30% cases


Muscle cramps Ophthalmoparesis Bilateral ptosis Aspiration pneumonia Progressive muscle weakness Gynecomastia Late-onset distal muscle weakness Difficulty walking Spinal rigidity Decreased muscle mass Hearing impairment Progressive external ophthalmoplegia Slender build Infantile muscular hypotonia Intellectual disability Generalized-onset seizure Scoliosis Chorea Inability to walk Feeding difficulties Motor delay Hepatomegaly Fatigue Dystonia Cerebral atrophy Constipation Tremor Cardiomyopathy Muscular hypotonia Progressive proximal muscle weakness Lower limb muscle weakness Distal amyotrophy Polyneuropathy Acidosis Myofibrillar myopathy Pelvic girdle muscle weakness Shoulder girdle muscle weakness Elevated hepatic transaminase Dysphonia Lactic acidosis Difficulty climbing stairs Centrally nucleated skeletal muscle fibers Aspiration Myositis Bulbar signs Anemia Intermittent diarrhea Paresthesia Abnormality of the mitochondrion Vomiting Decreased number of large peripheral myelinated nerve fibers Abnormality of eye movement Malabsorption Intestinal pseudo-obstruction Abnormality of the cerebral white matter Hyperalaninemia Chronic diarrhea Easy fatigability Gastroesophageal reflux Diarrhea Gastroparesis Cytochrome C oxidase-negative muscle fibers Leukodystrophy Macrovesicular hepatic steatosis Sensorimotor neuropathy Decreased sensory nerve conduction velocity Weight loss Diffuse leukoencephalopathy Multiple mitochondrial DNA deletions Hypergonadotropic hypogonadism Skeletal myopathy Peripheral axonal neuropathy Dementia Polycystic ovaries Nausea Cachexia Abnormality of the hand Abnormality of mitochondrial metabolism Decreased motor nerve conduction velocity Malnutrition Cirrhosis Distal sensory impairment Axonal degeneration Scleroderma Gastrointestinal dysmotility Poor appetite Abdominal distention Abnormality of the vasculature Increased CSF protein Peripheral demyelination Leukoencephalopathy Abdominal pain Absent Achilles reflex Hypogonadotrophic hypogonadism Demyelinating peripheral neuropathy Abnormality of the gastrointestinal tract Decreased activity of mitochondrial respiratory chain Subsarcolemmal accumulations of abnormally shaped mitochondria Rocker bottom foot Neonatal hypotonia Apnea Abnormality of the eye Arthrogryposis multiplex congenita Talipes Falls Decreased fetal movement Frequent falls Large fontanelles Hydrops fetalis Adducted thumb Pterygium Congenital contracture Akinesia Myopathic facies Micropenis Abnormality of the rib cage Transient myeloproliferative syndrome Severe hydrops fetalis Calf muscle pseudohypertrophy Multiple pterygia Hand clenching Neck flexor weakness Type 1 muscle fiber predominance Multiple joint contractures Nemaline bodies Fetal akinesia sequence EMG: neuropathic changes Cystic hygroma Pericardial effusion Mildly elevated creatine phosphokinase Polyhydramnios Hypospadias Intestinal perforation Hepatic failure Toe walking Nasal speech Delayed gross motor development Intellectual disability, progressive Aminoaciduria Lumbar hyperlordosis Irritability Ankle contracture Respiratory failure Small intestinal dysmotility Abnormality of the extraocular muscles Abnormal cell morphology Atrophic muscularis propria Hypointensity of cerebral white matter on MRI Generalized amyotrophy Facial diplegia Long philtrum Cleft palate Edema Talipes equinovarus Downslanted palpebral fissures High palate Low-set ears Cryptorchidism Hypertelorism Severe lactic acidosis Depletion of mitochondrial DNA in muscle tissue Loss of ability to walk in early childhood Generalized aminoaciduria Weak voice Respiratory arrest Abnormality of the basal ganglia Sensorineural hearing impairment Alacrima Phonic tics Hyperlipoproteinemia Amyotrophic lateral sclerosis Impotence Decreased fertility Muscle fibrillation Axonal loss Abnormality of lipid metabolism Overweight Abnormality of the mouth Hand tremor Distal lower limb amyotrophy Oligospermia Kinetic tremor Testicular atrophy Decreased LDL cholesterol concentration Hyperlipidemia Tongue atrophy Limb tremor Motor neuron atrophy Exercise-induced muscle cramps Erectile abnormalities Laryngospasm Proximal spinal muscular atrophy Global developmental delay Short stature Microcephaly Growth delay Strabismus Cataract Spinal muscular atrophy Fasciculations Delayed speech and language development Spinal canal stenosis Abnormality of metabolism/homeostasis Pallor Difficulty running Increased connective tissue Thenar muscle atrophy Muscle stiffness Achilles tendon contracture Hyporeflexia of lower limbs Progressive distal muscle weakness Muscle fiber cytoplasmatic inclusion bodies Pes cavus Dyspnea Increased variability in muscle fiber diameter Muscle fiber splitting Intention tremor Loss of ability to walk Abnormality of muscle fibers Fatty replacement of skeletal muscle Percussion myotonia Weakness of the intrinsic hand muscles Hyposegmentation of neutrophil nuclei Skeletal muscle fibrosis Infertility Facial asymmetry Sensory neuropathy Neurodegeneration Abnormal cerebellum morphology Type II diabetes mellitus Spasticity Myopia Abetalipoproteinemia Hepatosplenomegaly Cerebral white matter atrophy Exophoria Retinal degeneration Pigmentary retinopathy Mask-like facies Neck muscle weakness Progressive ptosis Cognitive impairment Behavioral abnormality Splenomegaly Depressivity Arrhythmia Myoclonus Anxiety Intellectual disability, borderline Dilated cardiomyopathy Ichthyosis Dyskinesia Cardiomegaly Atrial fibrillation EMG abnormality Obsessive-compulsive behavior Abnormality of the musculature Rhabdomyolysis Motor axonal neuropathy Acanthocytosis Tics Personality disorder Abnormal levels of creatine kinase in blood Right ventricular dilatation Intrauterine growth retardation Unsteady gait Cerebellar atrophy Absent speech Brachycephaly Cerebral cortical atrophy Hyperkeratosis EEG abnormality Abnormality of the liver Attention deficit hyperactivity disorder Generalized tonic-clonic seizures Congenital cataract Carious teeth Poor speech Abnormality of movement Hepatic steatosis Muscle fiber atrophy Focal-onset seizure Hip dysplasia Apraxia Lower limb spasticity Truncal ataxia CNS hypomyelination Impulsivity Athetosis Adrenal insufficiency Restrictive ventilatory defect Esophagitis Achalasia Speech apraxia Recurrent ear infections Mitochondrial depletion



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