Myopathy, and Abnormality of the pinna

Diseases related with Myopathy and Abnormality of the pinna

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

Top matches:

Distal myopathy, Welander type (WDM) is a distal myopathy characterized by weakness in the distal upper extremities, usually finger and wrist extensors which later progresses to all hand muscles and distal lower extremity, primarily in toe and ankle extensors.

DISTAL MYOPATHY, WELANDER TYPE Is also known as wdm

Related symptoms:

  • Myopathy


SOURCES: ORPHANET MENDELIAN

More info about DISTAL MYOPATHY, WELANDER TYPE

X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome is characterised by severe intellectual deficit, hypotonia, mild facial dysmorphism, and aggressive behaviour. It has been described in 10 male members spanning four generations of one family. The facial dysmorphism includes a high forehead, prominent ears, and a small pointed chin. Height and head circumference are reduced. This disorder is transmitted as an X-linked recessive trait and the causative gene maps to Xp22.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Abnormal facial shape


SOURCES: ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-HYPOTONIA-FACIAL DYSMORPHISM-AGGRESSIVE BEHAVIOR SYNDROME

BETHLEM MYOPATHY 1; BTHLM1 Is also known as muscular dystrophy, benign congenital|bethlem myopathy|myopathy, benign congenital, with contractures

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Failure to thrive
  • Muscle weakness
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about BETHLEM MYOPATHY 1; BTHLM1

Other less relevant matches:

CHANARIN-DORFMAN SYNDROME; CDS Is also known as neutral lipid storage disease with ichthyosis|dcs|nlsdi|triglyceride storage disease with impaired long-chain fatty acid oxidation|dorfman-chanarin syndrome|chanarin-dorfman disease|ichthyosiform erythroderma with leukocyte vacuolation|ichthyotic neutral

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about CHANARIN-DORFMAN SYNDROME; CDS

Wolfram-like syndrome is a rare endocrine disease characterized by the triad of adult-onset diabetes mellitus, progressive hearing loss (usually presenting in the first decade of life and principally of low to moderate frequencies), and/or juvenile-onset optic atrophy. Psychiatric (i.e. anxiety, depression, hallucinations) and sleep disorders, the only neurologic abnormalities observed in this disease, have been reported in rare cases. Unlike Wolfram syndrome, patients with Wolfram-like syndrome do not report endocrine or cardiac findings.

WOLFRAM-LIKE SYNDROME Is also known as hearing loss, progressive, with optic atrophy and/or impaired glucose regulation

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Visual impairment
  • Peripheral neuropathy


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about WOLFRAM-LIKE SYNDROME

DORFMAN-CHANARIN DISEASE Is also known as neutral lipid storage disease with ichthyosis|nlsdi

Related symptoms:


SOURCES: ORPHANET MENDELIAN

More info about DORFMAN-CHANARIN DISEASE

The musculocontractural type of Ehlers-Danlos syndrome is characterized by progressive multisystem fragility-related manifestations, including joint dislocations and deformities; skin hyperextensibility, bruisability, and fragility, with recurrent large subcutaneous hematomas; cardiac valvular, respiratory, gastrointestinal, and ophthalmologic complications; and myopathy, featuring muscle hypoplasia, muscle weakness, and an abnormal muscle fiber pattern in histology in adulthood, resulting in gross motor developmental delay (summary by Muller et al., 2013).For a discussion of genetic heterogeneity of the musculocontractural type of Ehlers-Danlos syndrome, see EDSMC1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Hypertelorism
  • Muscle weakness
  • Abnormal facial shape
  • Pain


SOURCES: OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2; EDSMC2

Autosomal recessive centronuclear myopathy (AR-CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.

AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY Is also known as myopathy, centronuclear, autosomal recessive|myotubular myopathy, autosomal recessive|ar-cnm

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY

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

Bethlem myopathy is a benign autosomal dominant form of slowly progressive muscular dystrophy.

BETHLEM MYOPATHY Is also known as ullrich scleroatonic muscular dystrophy|benign autosomal dominant myopathy|ullrich disease|ullrich congenital muscular dystrophy|muscular dystrophy, scleroatonic|ucmd

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about BETHLEM MYOPATHY

Top 5 symptoms//phenotypes associated to Myopathy and Abnormality of the pinna

Symptoms // Phenotype % cases
Protruding ear Uncommon - Between 30% and 50% cases
Muscle weakness Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Motor delay Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Myopathy and Abnormality of the pinna. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Muscular dystrophy Respiratory insufficiency due to muscle weakness Scarring Proximal muscle weakness Neonatal hypotonia Talipes equinovarus Global developmental delay Intellectual disability Flexion contracture High palate Ptosis Skeletal muscle atrophy Short stature Abnormal facial shape Feeding difficulties Respiratory insufficiency Generalized muscle weakness

Rare Symptoms - Less than 30% cases

Areflexia Hypertelorism Torticollis Sensorineural hearing impairment Ophthalmoplegia Limb-girdle muscular dystrophy Feeding difficulties in infancy Congenital muscular dystrophy Generalized amyotrophy Ankle contracture Follicular hyperkeratosis Cataract Type 1 muscle fiber predominance Difficulty climbing stairs Hearing impairment Ataxia Congenital hip dislocation Congenital contracture Progressive muscle weakness Hyperkeratosis Facial palsy Long face Failure to thrive Kyphosis Cardiomyopathy Respiratory failure Cognitive impairment Microcephaly Rigidity Narrow mouth Distal muscle weakness Camptodactyly of finger Kyphoscoliosis Facial hypotonia Abnormal heart valve morphology Centrally nucleated skeletal muscle fibers Hip contracture Difficulty running Agenesis of corpus callosum Facial diplegia Micrognathia Axial muscle weakness EMG: decremental response of compound muscle action potential to repetitive nerve stimulation Cleft palate Cerebellar hypoplasia Exertional dyspnea Low-set ears Wide nasal bridge Hydrocephalus Microphthalmia Fragile skin EMG: myopathic abnormalities Long fingers Pes cavus Difficulty walking Retrognathia Hyperlordosis Bifid uvula Waddling gait Left ventricular hypertrophy Dyspnea Scapular winging External ophthalmoplegia Hypoplasia of the musculature Intellectual disability, mild Congestive heart failure Dysarthria Delayed speech and language development Dysphonia Bilateral ptosis Gowers sign Ophthalmoparesis Polydactyly Ectopia pupillae Deeply set eye Increased variability in muscle fiber diameter Hyperhidrosis Joint laxity Joint stiffness Hip dislocation Round face Growth hormone deficiency Pachygyria EMG abnormality Lissencephaly Cachexia Abnormality of mitochondrial metabolism Multiple joint contractures Corneal astigmatism Mildly elevated creatine phosphokinase Spinal rigidity Progressive proximal muscle weakness Recurrent lower respiratory tract infections Proximal amyotrophy Slender build Muscle fiber necrosis Nocturnal hypoventilation Impaired mastication Hyperextensibility at wrists Increased laxity of fingers Growth delay Jejunal atresia Hydronephrosis Short palpebral fissure Wide mouth Coloboma Prominent nasal bridge Malabsorption Astigmatism Iris coloboma Microcornea Intestinal malrotation Prominent nose Cerebellar vermis hypoplasia Renal hypoplasia Optic nerve hypoplasia Hypoplastic iris stroma Preaxial polydactyly Short columella Sclerocornea Duodenal atresia Patent foramen ovale Sex reversal Peters anomaly Intestinal atresia Accessory spleen Retinal vascular tortuosity Bilateral renal hypoplasia Bilateral talipes equinovarus Frontal bossing Hyperextensible skin Congenital ichthyosiform erythroderma Alopecia Hepatosplenomegaly Microtia Ichthyosis Hepatic steatosis Everted lower lip vermilion Aortic regurgitation Scaling skin Ectropion Erythroderma Abnormality of blood and blood-forming tissues Strabismus Subcapsular cataract Congenital nonbullous ichthyosiform erythroderma Decreased plasma carnitine Generalized ichthyosis Visual impairment Peripheral neuropathy Optic atrophy Depressivity Visual loss Dementia Hepatomegaly Nystagmus Glaucoma Respiratory distress Gait disturbance High forehead EEG abnormality Aggressive behavior Triangular face Intellectual disability, profound Open mouth Short chin Long nose Abnormality of the skeletal system Elevated serum creatine phosphokinase Plantar flexion contractures Paralysis Papule Abnormality of the cardiovascular system Decreased fetal movement Elbow flexion contracture Limb-girdle muscle weakness Abnormality of the mitochondrion Diaphragmatic paralysis Congenital muscular torticollis Limb-girdle muscle atrophy Necrotizing myopathy Diabetes mellitus Autism Adducted thumb Telecanthus Pain Downslanted palpebral fissures Long philtrum Cerebral atrophy Midface retrusion Hernia Inguinal hernia Brachycephaly Arthralgia Myalgia Camptodactyly Primary gonadal insufficiency Talipes Arachnodactyly Joint hypermobility Bruising susceptibility Mitral valve prolapse Blue sclerae Mitral regurgitation Dental crowding Joint dislocation Delayed gross motor development Moderate hearing impairment Central diabetes insipidus Hypothyroidism Hallucinations Anxiety Pallor Autistic behavior Retinopathy Delayed puberty Peripheral axonal neuropathy Progressive cerebellar ataxia Bilateral sensorineural hearing impairment Type II diabetes mellitus Psychosis Progressive hearing impairment Abnormality of the upper urinary tract Schizophrenia Congenital sensorineural hearing impairment Glucose intolerance Diabetes insipidus Abnormality of color vision Scotoma Optic neuropathy Severe vision loss Severe postnatal growth retardation Male hypogonadism Gastrointestinal dysmotility Increased laxity of ankles


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