Myopathy, and Cerebellar hypoplasia

Diseases related with Myopathy and Cerebellar hypoplasia

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

Top matches:

Lissencephaly-7 with cerebellar hypoplasia is a severe neurodevelopmental disorder characterized by lack of psychomotor development, facial dysmorphism, arthrogryposis, and early-onset intractable seizures resulting in death in infancy (summary by Magen et al., 2015).For a general description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA; LIS7

MDDGB6 is an autosomal recessive congenital muscular dystrophy with mental retardation and structural brain abnormalities (Longman et al., 2003). It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as 'dystroglycanopathies' (Mercuri et al., 2009).For a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6; MDDGB6 Is also known as mdc1d|muscular dystrophy, congenital, large-related|muscular dystrophy, congenital, type 1d

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6; MDDGB6

Stromme syndrome is an autosomal recessive congenital disorder affecting multiple systems with features of a ciliopathy. Affected individuals typically have some type of intestinal atresia, variable ocular abnormalities, microcephaly, and sometimes involvement of other systems, including renal and cardiac. In some cases, the condition is lethal in early life, whereas other patients show normal survival with or without mild cognitive impairment (summary by Filges et al., 2016).

STROMME SYNDROME; STROMS Is also known as jejunal atresia with microcephaly and ocular anomalies|apple peel syndrome with microcephaly and ocular anomalies|ciliary dyskinesia, primary, 31, formerly|cild31, formerly

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: MESH OMIM MENDELIAN

More info about STROMME SYNDROME; STROMS

Other less relevant matches:

MDDGB2 is an autosomal recessive congenital muscular dystrophy associated with mental retardation and mild structural brain abnormalities (Yanagisawa et al., 2007). It is part of a group of similar disorders, collectively known as 'dystroglycanopathies,' resulting from defective glycosylation of alpha-dystroglycan (DAG1 ) (Godfrey et al., 2007).For a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2; MDDGB2 Is also known as muscular dystrophy, congenital, pomt2-related

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2; MDDGB2

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of DAG1 (OMIM ), collectively known as 'dystroglycanopathies' (summary by Godfrey et al., 2007).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCLE-EYE-BRAIN DISEASE Is also known as meb syndrome|santavuori congenital muscular dystrophy|walker-warburg syndrome or muscle-eye-brain disease, pomgnt1-related|muscle-eye-brain syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MUSCLE-EYE-BRAIN DISEASE

Progressive external ophthalmoplegia-myopathy-emaciation syndrome is a rare mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies characterized by progressive external ophthalmoplegia without diplopia, cerebellar atrophy, proximal skeletal muscle weakness with generalized muscle wasting, profound emaciation, respiratory failure, spinal deformity and facial muscle weakness (manifesting with ptosis, dysphonia, dysphagia and nasal speech). Intellectual disability, gastrointestinal symptoms (e.g. nausea, abdominal fullness, and loss of appetite), dilated cardiomyopathy and renal colic have also been reported.

PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA-MYOPATHY-EMACIATION SYNDROME Is also known as mitochondrial dna maintenance syndrome due to mgme1 deficiency|peo-myopathy-emaciation syndrome|mtdna maintenance syndrome due to mgme1 deficiency

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Muscle weakness
  • Ptosis
  • Skeletal muscle atrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA-MYOPATHY-EMACIATION SYNDROME

MITOCHONDRIAL MYOPATHY-CEREBELLAR ATAXIA-PIGMENTARY RETINOPATHY SYNDROME Is also known as mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about MITOCHONDRIAL MYOPATHY-CEREBELLAR ATAXIA-PIGMENTARY RETINOPATHY SYNDROME

Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease (see this term) characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise.

CONGENITAL CATARACT-HYPERTROPHIC CARDIOMYOPATHY-MITOCHONDRIAL MYOPATHY SYNDROME Is also known as mtdps10|sengers syndrome|cardiomyopathy and cataract|mitochondrial dna depletion syndrome 10 (cardiomyopathic type)

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Growth delay
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL CATARACT-HYPERTROPHIC CARDIOMYOPATHY-MITOCHONDRIAL MYOPATHY SYNDROME

Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities.

WALKER-WARBURG SYNDROME Is also known as hard syndrome|cerebroocular dysplasia-muscular dystrophy syndrome|hydrocephalus, agyria, and retinal dysplasia|walker-warburg syndrome or muscle-eye-brain disease, pomt1-related|wws|hydrocephalus-agyria-retinal dysplasia syndrome|cod-md syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about WALKER-WARBURG SYNDROME

Fukuyama type muscular dystrophy (FCMD) is a congenital progressive muscular dystrophy characterized by brain malformation (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit, epilepsy and motor impairment.

CONGENITAL MUSCULAR DYSTROPHY, FUKUYAMA TYPE Is also known as walker-warburg syndrome or muscle-eye-brain disease, fktn-related|fukuyama congenital muscular dystrophy|fcmd

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY, FUKUYAMA TYPE

Top 5 symptoms//phenotypes associated to Myopathy and Cerebellar hypoplasia

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Elevated serum creatine phosphokinase Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Myopathy and Cerebellar hypoplasia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Myopia

Uncommon Symptoms - Between 30% and 50% cases

Microcephaly Congenital muscular dystrophy Hypoplasia of the brainstem Cataract Generalized muscle weakness Abnormality of the cerebral white matter Muscular dystrophy Ventriculomegaly Motor delay Muscular hypotonia Strabismus Seizures Agenesis of corpus callosum Areflexia Respiratory insufficiency Congenital cataract Intellectual disability, severe Lissencephaly Flexion contracture Dilatation Hyporeflexia Cerebellar cyst Microphthalmia Hydrocephalus Cerebellar vermis hypoplasia Micrognathia Pachygyria Glaucoma Agyria Encephalocele Retinal dysplasia Cognitive impairment Optic atrophy Polymicrogyria Coloboma Skeletal muscle hypertrophy Retinopathy Neonatal hypotonia Optic nerve hypoplasia Hypoplasia of the corpus callosum Buphthalmos Hypoglycosylation of alpha-dystroglycan Respiratory failure Nystagmus Facial palsy Intellectual disability, profound Proximal muscle weakness Skeletal muscle atrophy Growth delay Scoliosis Cerebellar dysplasia Type II lissencephaly

Rare Symptoms - Less than 30% cases

Ragged-red muscle fibers Gait disturbance Visual impairment Calf muscle hypertrophy Pigmentary retinopathy Amenorrhea Easy fatigability Delayed speech and language development Primary amenorrhea Dilated cardiomyopathy Spinal rigidity Generalized amyotrophy Cryptorchidism Pectus excavatum Dyspnea EEG abnormality Mitochondrial myopathy Meningocele Megalocornea Exercise intolerance Congenital glaucoma Cortical dysplasia Aplasia/Hypoplasia of the corpus callosum Holoprosencephaly Severe muscular hypotonia Pallor EMG abnormality Cardiomyopathy Macrocephaly Congestive heart failure Retinal detachment Intrauterine growth retardation Respiratory distress Retinal atrophy Hip dislocation Increased variability in muscle fiber diameter Short stature Arthrogryposis multiplex congenita Open mouth Hydronephrosis Low-set ears Ptosis Cleft palate Hypertelorism Decreased light- and dark-adapted electroretinogram amplitude Microcornea Cerebellar atrophy Abnormality of the periventricular white matter Myopathic facies Abnormality of neuronal migration Gowers sign Abnormal electroretinogram Limb muscle weakness Macroglossia Iris coloboma Abnormality of the pinna Peters anomaly Lactic acidosis Thoracic hemivertebrae Weak cry 3-Methylglutaconic aciduria Abnormal myelination Fatigue Decreased activity of mitochondrial respiratory chain Hypertension Failure to thrive Enlarged interhemispheric fissure Transposition of the great arteries Fatty replacement of skeletal muscle Thrombocytopenia Inferior vermis hypoplasia Speech articulation difficulties Thick hair Prolactin excess Infantile axial hypotonia Cephalocele Multiple joint contractures Poor coordination Exercise-induced lactic acidemia Abnormal muscle fiber protein expression Depletion of mitochondrial DNA in muscle tissue Headache Atrophy/Degeneration affecting the brainstem Increased serum lactate Myocardial fibrosis Aciduria Esotropia Stroke Pulmonary arterial hypertension Exaggerated startle response Feeding difficulties in infancy Hemiparesis Cardiac arrest Corneal dystrophy Mental deterioration Tachypnea Eosinophilia Acidosis Recurrent upper respiratory tract infections Hypertrophic cardiomyopathy Premature ovarian insufficiency Abnormality of mitochondrial metabolism Osteopenia Cardiorespiratory arrest Ankle contracture Anencephaly Right ventricular hypertrophy Organic aciduria Skeletal myopathy Mask-like facies Abnormality of the cerebellar vermis Plagiocephaly Abnormality of the optic nerve Apnea Rigidity Absent septum pellucidum Occipital encephalocele Submucous cleft hard palate Bilateral cleft lip Brachycephaly Atrial septal defect Hyperthyroidism Abnormal aldolase level Abnormal cortical gyration Thick cerebral cortex Aqueductal stenosis Congenital contracture Muscle fiber splitting Aplasia/Hypoplasia involving the skeletal musculature Hypoplastic male external genitalia Chorioretinal dysplasia Abnormal lactate dehydrogenase activity Macrogyria Severe hydrocephalus Metatarsus valgus Excessive daytime sleepiness Remnants of the hyaloid vascular system Posterior fossa cyst Meningoencephalocele Anophthalmia Atresia of the external auditory canal Knee flexion contracture Corneal opacity Frontal bossing Hemivertebrae Blindness Posteriorly rotated ears Proptosis Abnormal levels of creatine kinase in blood Congenital hip dislocation Protruding ear Microtia Bradycardia Preauricular skin tag Brain atrophy Anal atresia Renal dysplasia Cleft upper lip Oral cleft Retinal dystrophy Abnormal cerebellum morphology Pulmonic stenosis Bifid uvula Hypermetropia Dandy-Walker malformation Specific learning disability Hypoplasia of penis Heterotopia Dolichocephaly Camptodactyly of finger Cleft lip Hypogonadism Multiple lipomas Abnormal heart morphology Short columella Sclerocornea Duodenal atresia Ectopia pupillae Sex reversal Intestinal atresia Accessory spleen Retinal vascular tortuosity Bilateral renal hypoplasia Hypoplastic iris stroma Jejunal atresia Corneal astigmatism Cerebral cortical atrophy Short palpebral fissure Micropenis Hyperlordosis Ventricular hypertrophy Left ventricular hypertrophy Left ventricular systolic dysfunction Spasticity Hypertonia Malar flattening Midface retrusion Myoclonus Neurological speech impairment Severe global developmental delay Preaxial polydactyly Renal hypoplasia Retinal degeneration Horizontal nystagmus Abnormal facial shape Pain Short neck Hirsutism Full cheeks Lymphedema Centrally nucleated skeletal muscle fibers Hand clenching Babinski sign Lower limb muscle weakness Waddling gait Joint contracture of the hand Elbow flexion contracture Prominent nose EMG: myopathic abnormalities Lower limb hyperreflexia Achilles tendon contracture Mild myopia Wide nasal bridge Polydactyly Deeply set eye Wide mouth Prominent nasal bridge Malabsorption Astigmatism Intestinal malrotation Abnormality of movement Everted lower lip vermilion Dysdiadochokinesis Distal muscle weakness High palate Tremor Intellectual disability, mild Depressivity Delayed skeletal maturation Pes cavus Gait ataxia Mandibular prognathia Kyphoscoliosis Difficulty walking Myalgia Anxiety Dysmetria Hearing impairment Long face Falls Distal amyotrophy Distal sensory impairment Inability to walk Small hand Sensory impairment Intention tremor Frequent falls Limb ataxia Truncal ataxia Schizophrenia Ataxia Spinal deformities High myopia Diarrhea Opacification of the corneal stroma Infantile muscular hypotonia Abnormality of the voice Aplasia/Hypoplasia of the cerebellum Hemiplegia/hemiparesis Hypoplasia of the pons Undetectable electroretinogram Uncontrolled eye movements Hypoplasia of the retina Short nasal bridge Enlarged flash visual evoked potentials Dysphagia Kyphosis Proximal amyotrophy Renal insufficiency Recurrent infections Arrhythmia Ophthalmoplegia Stage 5 chronic kidney disease Nausea Hypergonadotropic hypogonadism External ophthalmoplegia Respiratory insufficiency due to muscle weakness Dysphonia Chronic kidney disease Nasal speech Progressive external ophthalmoplegia Hypoplasia of the pyramidal tract


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