Sensorineural hearing impairment, and Limb-girdle muscular dystrophy

Diseases related with Sensorineural hearing impairment and Limb-girdle muscular dystrophy

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


Top matches:

Medium match FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1; FSHD1


Facioscapulohumeral muscular dystrophy is the third most common hereditary disease of muscle after Duchenne (DMD ) and myotonic (OMIM ) dystrophy. It is a highly variable disorder with weakness appearing from infancy to late life but typically in the second decade. In general, the disease initially involves the face and the scapulae followed by the foot dorsiflexors and the hip girdles. Typical features are striking asymmetry of muscle involvement from side to side and sparing of bulbar extraocular and respiratory muscles (Tawil et al., 1998).Richards et al. (2012) provided a detailed review of FSHD.See also FSHD2 (OMIM ), which is phenotypically indistinguishable from FSHD1 but not associated with contraction of the D4Z4 microsatellite repeat. Evidence suggests, however, that epigenetic changes in this region are associated with both FSHD1 and FSHD2 (Zeng et al., 2009).

FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1; FSHD1 Is also known as muscular dystrophy, facioscapulohumeral, type 1a|fshd|fshd1a|landouzy-dejerine muscular dystrophy|muscular dystrophy, facioscapulohumeral, type 1|fmd|facioscapulohumeral muscular dystrophy

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1; FSHD1

Medium match MYOPATHY, MYOFIBRILLAR, 1; MFM1


Myofibrillar myopathy (MFM) is a noncommittal term that refers to a group of morphologically homogeneous, but genetically heterogeneous chronic neuromuscular disorders. The morphologic changes in skeletal muscle in MFM result from disintegration of the sarcomeric Z disc and the myofibrils, followed by abnormal ectopic accumulation of multiple proteins involved in the structure of the Z disc, including desmin, alpha-B-crystallin (CRYAB ), dystrophin (OMIM ), and myotilin (TTID ). Genetic Heterogeneity of Myofibrillar MyopathyOther forms of MFM include MFM2 (OMIM ), caused by mutation in the CRYAB gene (OMIM ); MFM3 (OMIM ) (OMIM ), caused by mutation in the MYOT gene (OMIM ); MFM4 (OMIM ), caused by mutation in the ZASP gene (LDB3 ); MFM5 (OMIM ), caused by mutation in the FLNC gene (OMIM ); MFM6 (OMIM ), caused by mutation in the BAG3 gene (OMIM ); MFM7 (OMIM ), caused by mutation in the KY gene (OMIM ); and MFM8 (OMIM ), caused by mutation in the PYROXD1 gene (OMIM ).'Desmin-related myopathy' is another term referring to MFM in which there are intrasarcoplasmic aggregates of desmin, usually in addition to other sarcomeric proteins. Rigid spine syndrome (OMIM ), caused by mutation in the SEPN1 gene (OMIM ), is another desmin-related myopathy. Goebel (1995) provided a review of desmin-related myopathy.

MYOPATHY, MYOFIBRILLAR, 1; MFM1 Is also known as drm|cardiomyopathy, dilated, with conduction defect and muscular dystrophy|cardiomyopathy, dilated, 1f and limb-girdle muscular dystrophy type 1d, formerly|myopathy, myofibrillar, desmin-related|lgmd2r, formerly|desminopathy, primary|arvd7, formerly|cmd1f

Related symptoms:

  • Scoliosis
  • Muscle weakness
  • Pain
  • Cataract
  • Flexion contracture


SOURCES: ORPHANET OMIM MENDELIAN

More info about MYOPATHY, MYOFIBRILLAR, 1; MFM1

Medium match AUTOSOMAL RECESSIVE EMERY-DREIFUSS MUSCULAR DYSTROPHY


Emery-Dreifuss muscular dystrophy is characterized classically by the triad of weakness of the shoulder and pelvic girdle muscles, contractures of the elbows, neck, and Achilles tendon, and cardiac involvement, most commonly arrhythmias (summary by Jimenez-Escrig et al., 2012).For a discussion of genetic heterogeneity of EDMD, see {310300}.

AUTOSOMAL RECESSIVE EMERY-DREIFUSS MUSCULAR DYSTROPHY Is also known as edmd3

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Micrognathia
  • Muscle weakness
  • Abnormal facial shape


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE EMERY-DREIFUSS MUSCULAR DYSTROPHY

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Medium match AUTOSOMAL DOMINANT EMERY-DREIFUSS MUSCULAR DYSTROPHY


EDMD is characterized by myopathic changes in certain skeletal muscles and early contractures at the neck, elbows, and Achilles tendons, as well as cardiac conduction defects. 'Classic' Emery-Dreifuss muscular dystrophy (EDMD1 ) is an X-linked disorder caused by mutation in the emerin gene (EMD ) on Xq28 (Emery, 1989).For a discussion of genetic heterogeneity of EDMD, see {310300}.

AUTOSOMAL DOMINANT EMERY-DREIFUSS MUSCULAR DYSTROPHY Is also known as scapuloilioperoneal atrophy with cardiopathy|emd2|muscular dystrophy, limb-girdle, type 1b, formerly|emery-dreifuss muscular dystrophy, autosomal dominant|edmd2|cardiomyopathy, dilated, with quadriceps myopathy|muscular dystrophy, proximal, type 1b, forme

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Muscular hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT EMERY-DREIFUSS MUSCULAR DYSTROPHY

Medium match ARRHINIA-CHOANAL ATRESIA-MICROPHTHALMIA SYNDROME


Arhinia-choanal atresia-microphthalmia is a malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.

ARRHINIA-CHOANAL ATRESIA-MICROPHTHALMIA SYNDROME Is also known as arhinia, choanal atresia, microphthalmia, and hypogonadotropic hypogonadism

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Cleft palate
  • Cataract
  • Cryptorchidism


SOURCES: ORPHANET OMIM MENDELIAN

More info about ARRHINIA-CHOANAL ATRESIA-MICROPHTHALMIA SYNDROME

Low match ADULT-ONSET MULTIPLE MITOCHONDRIAL DNA DELETION SYNDROME DUE TO DGUOK DEFICIENCY


Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency is an extremely rare multiple mitochondrial DNA deletion syndrome with markedly decreased deoxyguanosine kinase (DGUOK) activity in skeletal muscle characterized by a highly variable phenotype. Clinical manifestations include progressive external ophthalmoplegia, mitochondrial myopathy, recurrent rhabdomyolysis, lower motor neuron disease, mild cognitive impairment, sensory axonal neuropathy, optic atrophy, ataxia, hypogonadism and/or parkinsonism.

ADULT-ONSET MULTIPLE MITOCHONDRIAL DNA DELETION SYNDROME DUE TO DGUOK DEFICIENCY Is also known as adult-onset multiple mtdna deletion syndrome due to dguok deficiency|progressive external ophthalmoplegia, autosomal recessive 4

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ADULT-ONSET MULTIPLE MITOCHONDRIAL DNA DELETION SYNDROME DUE TO DGUOK DEFICIENCY

Low match FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2; FSHD2


Facioscapulohumeral muscular dystrophy is a form of muscular dystrophy characterized by muscle weakness that first affects the facial muscles and upper extremities, later progressing to involve the lower extremities. The pattern of weakness is usually asymmetric (summary by Lemmers et al., 2012).FSHD1 (OMIM ), which is clinically indistinguishable from FSHD2, is associated with contraction of the D4Z4 macrosatellite repeat (see {606009}) in the subtelomeric region of chromosome 4q35. The disease mechanisms of FSHD1 and FSHD2 converge at the level of D4Z4 chromatin relaxation and variegated expression of DUX4 in skeletal muscle (summary by Lemmers et al., 2012).

FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2; FSHD2 Is also known as facioscapulohumeral muscular dystrophy 2, digenic|fshd1b|muscular dystrophy, facioscapulohumeral, type 2|fshd2, digenic|muscular dystrophy, facioscapulohumeral, type 1b

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness
  • Pain
  • Fatigue


SOURCES: OMIM MENDELIAN

More info about FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2; FSHD2

Low match AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2C


Autosomal dominant Charcot-Marie-Tooth disease type 2C (CMT2C) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by the association of vocal cord anomalies, impairment of respiratory muscles and sensorineural hearing loss with the distal hands and feet weakness. Onset is between infancy and the 6th decade.

AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2C Is also known as hmsn iic|charcot-marie-tooth neuropathy, type 2c|charcot-marie-tooth disease, axonal, autosomal dominant, type 2c|cmt2c

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2C

Low match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14; MDDGA14


MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14; MDDGA14 Is also known as walker-warburg syndrome or muscle-eye-brain disease, gmppb-related

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Ataxia
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14; MDDGA14

Low match CHANARIN-DORFMAN SYNDROME; CDS


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

Top 5 symptoms//phenotypes associated to Sensorineural hearing impairment and Limb-girdle muscular dystrophy

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

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

Uncommon Symptoms - Between 30% and 50% cases


Scapular winging Skeletal muscle atrophy Limb muscle weakness Shoulder girdle muscle atrophy Facial palsy Ptosis Intellectual disability Proximal muscle weakness Flexion contracture Gait disturbance Cataract Scoliosis Respiratory insufficiency Arrhythmia Peripheral neuropathy Ichthyosis Pectus excavatum Lower limb muscle weakness Joint stiffness Distal muscle weakness Dilated cardiomyopathy Vertigo Sudden cardiac death Atrial fibrillation Palpitations Rimmed vacuoles Spinal rigidity Elbow flexion contracture Atrioventricular block EMG: myopathic abnormalities Shoulder girdle muscle weakness Ataxia Spinal muscular atrophy Hyperlordosis Respiratory failure Foot dorsiflexor weakness

Rare Symptoms - Less than 30% cases


Difficulty climbing stairs Difficulty walking Knee flexion contracture Obesity Vocal cord paralysis Mildly elevated creatine phosphokinase Cleft palate Hyporeflexia Peripheral axonal neuropathy Areflexia Strabismus Dysphonia Fatigue Waddling gait Muscular hypotonia Hyporeflexia of lower limbs Progressive proximal muscle weakness Heart block Short stature Global developmental delay Kyphosis Pes cavus Type 1 muscle fiber atrophy Limb-girdle muscle weakness Proximal upper limb amyotrophy Ventricular escape rhythm Proximal muscle weakness in upper limbs Proximal lower limb amyotrophy Absent muscle fiber emerin Increased LDL cholesterol concentration Decreased cervical spine flexion due to contractures of posterior cervical muscles Pelvic girdle muscle weakness Proximal muscle weakness in lower limbs Achilles tendon contracture Ankle contracture Hypertriglyceridemia Sprengel anomaly Toe walking Restricted neck movement due to contractures Congenital muscular dystrophy High palate Feeding difficulties Midface retrusion Myotonia Lipodystrophy Back pain Reduced tendon reflexes Supraventricular arrhythmia Limb-girdle muscle atrophy Dysphagia Myocardial infarction Tachycardia Beevor's sign Respiratory distress Syncope Cardiomyopathy Myalgia Scapulohumeral muscular dystrophy Congestive heart failure External ophthalmoplegia Visual impairment Ophthalmoplegia Bilateral sensorineural hearing impairment Progressive muscle weakness Calf muscle hypertrophy Delayed speech and language development Paresthesia Respiratory insufficiency due to muscle weakness Progressive external ophthalmoplegia Hypertrophic cardiomyopathy Dyspnea Pain Kyphoscoliosis Mitochondrial myopathy Akinesia Glaucoma Visual loss Motor delay Talipes equinovarus Skeletal dysplasia Apnea Paralysis Hip dislocation Dolichocephaly Distal amyotrophy Rhabdomyolysis Fasciculations Decreased nerve conduction velocity Lacrimal duct stenosis Scrotal hypoplasia Anosmia Reduced number of teeth Anophthalmia Preauricular pit Agenesis of permanent teeth Hypoplastic labia majora Hyposmia Lacrimation abnormality Hypoplasia of teeth Diastema Abnormality of the sense of smell Ragged-red muscle fibers Aplasia/Hypoplasia involving the nose Frontal encephalocele Aplasia of the nose Absent paranasal sinuses Cognitive impairment Cerebral cortical atrophy Retinopathy Hepatic failure Increased serum lactate Peripheral demyelination Sensory neuropathy Distal sensory impairment Stridor Polyneuropathy Microtia Absent speech Cerebellar hypoplasia Inability to walk Oligohydramnios Hypoplasia of the pons Hypoglycosylation of alpha-dystroglycan Nystagmus Hepatomegaly Alopecia Hepatosplenomegaly Hepatic steatosis Intellectual disability, severe Everted lower lip vermilion Aortic regurgitation Scaling skin Ectropion Erythroderma Congenital ichthyosiform erythroderma Abnormality of blood and blood-forming tissues Subcapsular cataract Congenital nonbullous ichthyosiform erythroderma Decreased plasma carnitine Hypertonia Microcephaly Urinary incontinence Down-sloping shoulders Tetraparesis Sensorimotor neuropathy Hoarse voice Congenital hip dislocation Sleep apnea Encephalocele Hammertoe Urinary urgency Wheezing Obstructive sleep apnea Hand muscle weakness Bilateral vocal cord paresis Oculomotor nerve palsy Inspiratory stridor Progressive peripheral neuropathy Abducens palsy Diaphragmatic weakness Vocal cord paresis Hand muscle atrophy Bilateral vocal cord paralysis Intercostal muscle weakness Decreased distal sensory nerve action potential Hypogonadotrophic hypogonadism Coloboma Choanal atresia Generalized amyotrophy Generalized muscle weakness Hypertension Pneumonia Constipation Lumbar hyperlordosis Dilatation Abnormal lung morphology Diplopia Diarrhea Restrictive ventilatory defect Abnormal facial shape Scapuloperoneal myopathy Progeroid facial appearance Exudative retinopathy High-frequency sensorineural hearing impairment Decreased HDL cholesterol concentration Increased connective tissue Wrist drop Exudative retinal detachment Retinal telangiectasia Abdominal wall muscle weakness Chest pain Micrognathia Abnormality of the tongue Ventricular hypertrophy Increased variability in muscle fiber diameter Bundle branch block Right bundle branch block Ventricular tachycardia Hypokinesia Bulbar palsy Muscle stiffness Centrally nucleated skeletal muscle fibers Neck muscle weakness Ventricular extrasystoles Restrictive heart failure Atrial flutter Restrictive cardiomyopathy Myofibrillar myopathy Skeletal myopathy Right ventricular cardiomyopathy Intestinal pseudo-obstruction Sick sinus syndrome Third degree atrioventricular block Late-onset proximal muscle weakness Pica Tongue atrophy Seizures Primary amenorrhea Inguinal hernia Scapuloperoneal amyotrophy Proximal spinal muscular atrophy Hypertelorism Cryptorchidism Low-set ears Edema Microphthalmia Hernia Hypospadias Hypogonadism Left anterior fascicular block Micropenis Cleft lip Tricuspid regurgitation Corneal opacity Synophrys Delayed puberty Iris coloboma Hypoplasia of the maxilla Broad nasal tip Dental malocclusion Peroneal muscle weakness Peroneal muscle atrophy Permanent atrial fibrillation Telangiectasia Restrictive deficit on pulmonary function testing High-frequency hearing impairment Cor pulmonale Pelvic girdle muscle atrophy Increased reactive oxygen species production Severe hearing impairment Generalized hypotonia Infantile spasms Wide nasal bridge Mask-like facies Rigidity Atrial arrhythmia Neonatal hypotonia Falls Frequent falls Bradycardia Ventricular arrhythmia Retinal detachment Proximal amyotrophy Distal lower limb amyotrophy Distal lower limb muscle weakness Abnormal atrioventricular conduction Generalized ichthyosis



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