Hearing impairment, and Limb-girdle muscular dystrophy

Diseases related with Hearing impairment and Limb-girdle muscular dystrophy

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

Top matches:

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

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

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

Other less relevant matches:

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

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

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

Cobblestone lissencephaly without muscular or ocular involvement is a form of cobblestone lissencephaly characterized by a constellation of brain malformations which can either exist alone or in conjunction with minimal muscular and ocular abnormalities. The clinical features of the disease include severe developmental delay, increased head circumference, hydrocephalus and seizures.

COBBLESTONE LISSENCEPHALY WITHOUT MUSCULAR OR OCULAR INVOLVEMENT Is also known as lissencephaly type 2 without muscular or ocular involvement|lissencephaly type 2 without muscular or eye involvement|cobblestone lissencephaly without muscular or eye involvement

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about COBBLESTONE LISSENCEPHALY WITHOUT MUSCULAR OR OCULAR INVOLVEMENT

Congenital adrenal hypoplasia (AHC) is a rare disorder that can be inherited in an X-linked or autosomal recessive (see {240200}) pattern. In X-linked AHC, primary adrenocortical failure occurs because the adrenal glands lack the permanent adult cortical zone. The remaining cells are termed 'cytomegalic' because they are larger than typical fetal adrenal cells (Hay et al., 1981; Reutens et al., 1999).Patients with AHC usually present in early infancy with primary adrenal failure. Hypogonadotropic hypogonadism (HHG) is a hallmark of the disorder, and is recognized during adolescence because of the absence or interruption of normal pubertal development. Abnormal spermatogenesis has also been observed in these patients. Milder forms of the disease have been described, with adrenal insufficiency sometimes occurring in childhood or even early adulthood. A few cases of partial HHG have been reported (summary by Raffin-Sanson et al., 2013). Transient precocious sexual development in infancy or early childhood can be a prominent feature of AHC (Landau et al., 2010).A contiguous gene syndrome involving a combination of congenital adrenal hypoplasia, glycerol kinase deficiency (OMIM ), and Duchenne muscular dystrophy (DMD ) is caused by deletion of multiple genes on chromosome Xp21 (see {300679}).

CYTOMEGALIC CONGENITAL ADRENAL HYPOPLASIA Is also known as ahch|cytomegalic adrenocortical hypoplasia|x-linked congenital adrenal hypoplasia|adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism|ahc with isolated gonadotropin deficiency|addison disease, x-linked|ahx|ahc with hhg

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Failure to thrive
  • Cryptorchidism
  • Vomiting


SOURCES: OMIM ORPHANET MENDELIAN

More info about CYTOMEGALIC CONGENITAL ADRENAL HYPOPLASIA

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

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with congenital muscular dystrophy resulting in muscle weakness early in life and brain and eye anomalies. It is usually associated with delayed psychomotor development and shortened life expectancy. The phenotype includes the alternative clinical designations Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB). The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as dystroglycanopathies (summary by Stevens et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12; MDDGA12 Is also known as walker-warburg syndrome or muscle-eye-brain disease, pomk-related

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12; MDDGA12

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

Symptoms // Phenotype % cases
Muscular dystrophy Common - Between 50% and 80% cases
Sensorineural hearing impairment Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Cataract Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Elevated serum creatine phosphokinase Bilateral sensorineural hearing impairment Encephalocele Seizures Cerebellar hypoplasia Intellectual disability Myopathy Ataxia Skeletal muscle atrophy Foot dorsiflexor weakness

Rare Symptoms - Less than 30% cases

Occipital encephalocele Fatigue Severe global developmental delay Scapulohumeral muscular dystrophy Dysphonia Hydrocephalus Beevor's sign Shoulder girdle muscle atrophy Hypogonadotrophic hypogonadism Hypoplasia of the brainstem Cleft palate Cryptorchidism Macrocephaly Microphthalmia Areflexia Short stature Scoliosis Hypogonadism Strabismus Coloboma Lissencephaly Type II lissencephaly Progressive external ophthalmoplegia High-frequency hearing impairment Ophthalmoplegia Ptosis Visual impairment Gait disturbance Dysphagia Glaucoma Respiratory failure Peripheral neuropathy Facial palsy Microcephaly Feeding difficulties Hyporeflexia Scapular winging Distal muscle weakness Generalized hypotonia Peripheral axonal neuropathy Delayed puberty Limb muscle weakness Infantile spasms Flexion contracture Spinal muscular atrophy External ophthalmoplegia Hemiplegia Failure to thrive Porencephalic cyst Hypoglycemia Gray matter heterotopias Right hemiplegia Vomiting Leukoencephalopathy Abnormality of the cerebral white matter Absence seizures Muscular hypotonia Intercostal muscle weakness Decreased distal sensory nerve action potential Bilateral vocal cord paresis Intellectual disability, severe Hypertonia Absent speech Inability to walk Oligohydramnios Hypoplasia of the pons Hypoglycosylation of alpha-dystroglycan Optic atrophy Heterotopia Mental deterioration Spastic paraplegia Paraplegia Polymicrogyria Neurodegeneration Coma Abnormal cerebellum morphology Tetraplegia Spastic tetraplegia Progressive neurologic deterioration Asthma Decreased circulating aldosterone level Dehydration Neonatal hypotonia Erythroderma Congenital ichthyosiform erythroderma Abnormality of blood and blood-forming tissues Subcapsular cataract Congenital nonbullous ichthyosiform erythroderma Decreased plasma carnitine Generalized ichthyosis Myopia Ventriculomegaly Agenesis of corpus callosum Reduced visual acuity Polyhydramnios Poor speech Scaling skin Retinal degeneration High myopia Cerebellar vermis hypoplasia Progressive microcephaly Respiratory insufficiency due to muscle weakness Arnold-Chiari malformation Poor head control CNS hypomyelination Congenital muscular dystrophy Hypoventilation Abnormally large globe Retinal coloboma Agyria Ectropion Aortic regurgitation Hyperpigmentation of the skin Gonadotropin deficiency Accelerated skeletal maturation Azoospermia Shock Schizophrenia Precocious puberty Hyponatremia Adrenal insufficiency Primary adrenal insufficiency Adrenal hypoplasia Adrenal hyperplasia Renal salt wasting Oligospermia Decreased circulating cortisol level Long penis Everted lower lip vermilion Hand muscle atrophy Congenital adrenal hyperplasia Abnormal spermatogenesis Congenital adrenal hypoplasia Absence of pubertal development Adrenocortical hypoplasia Nystagmus Hepatomegaly Alopecia Hepatosplenomegaly Microtia Ichthyosis Hepatic steatosis Bilateral vocal cord paralysis Dolichocephaly Vocal cord paresis Hypoplasia of the maxilla Edema Midface retrusion Hernia Hypospadias Inguinal hernia Micropenis Cleft lip Corneal opacity Synophrys Iris coloboma Broad nasal tip Low-set ears Dental malocclusion Primary amenorrhea Choanal atresia Scrotal hypoplasia Anosmia Reduced number of teeth Anophthalmia Preauricular pit Agenesis of permanent teeth Hypoplastic labia majora Hyposmia High palate Hypertelorism Hypoplasia of teeth Severe hearing impairment Delayed speech and language development Visual loss Kyphoscoliosis Myalgia Hyperlordosis Retinopathy Tachycardia Retinal detachment Telangiectasia Mask-like facies Calf muscle hypertrophy Increased reactive oxygen species production Scapuloperoneal myopathy Shoulder girdle muscle weakness Cor pulmonale Restrictive deficit on pulmonary function testing Abnormality of the tongue Tongue atrophy Abdominal wall muscle weakness Retinal telangiectasia Exudative retinal detachment Wrist drop High-frequency sensorineural hearing impairment Exudative retinopathy Lacrimation abnormality Diastema Diaphragmatic weakness Sleep apnea Hip dislocation Distal amyotrophy Distal sensory impairment Sensory neuropathy Polyneuropathy Urinary incontinence Tetraparesis Sensorimotor neuropathy Hoarse voice Congenital hip dislocation Knee flexion contracture Stridor Apnea Hammertoe Urinary urgency Wheezing Obstructive sleep apnea Down-sloping shoulders Vocal cord paralysis Hand muscle weakness Oculomotor nerve palsy Inspiratory stridor Progressive peripheral neuropathy Abducens palsy Paralysis Difficulty walking Lacrimal duct stenosis Increased serum lactate Abnormality of the sense of smell Aplasia/Hypoplasia involving the nose Frontal encephalocele Aplasia of the nose Absent paranasal sinuses Pain Pelvic girdle muscle weakness Cognitive impairment Cerebral cortical atrophy Proximal muscle weakness Hepatic failure Peripheral demyelination Skeletal dysplasia Fasciculations Ragged-red muscle fibers Decreased nerve conduction velocity Rhabdomyolysis Mitochondrial myopathy Motor delay Talipes equinovarus Respiratory insufficiency Respiratory distress Pectus excavatum Pes cavus Cortical cataract


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