Cardiomyopathy, and Macroglossia

Diseases related with Cardiomyopathy and Macroglossia

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


Top matches:

Medium match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2W


Autosomal recessive limb-girdle muscular dystrophy type 2W is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by childhood onset of severe, progressive, proximal skeletal muscle weakness and atrophy of the upper and lower limbs with later involvement of distal muscles and development of severe quadraparesis, calf hypertrophy, triangular tongue, and dilated cardiomyopathy. Skeletal muscles undergo diffuse, bilateral, symmetric and severe atrophy with fat infiltration.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2W Is also known as lgmd2w

Related symptoms:

  • Muscle weakness
  • Skeletal muscle atrophy
  • Talipes equinovarus
  • Cardiomyopathy
  • Elevated serum creatine phosphokinase


SOURCES: ORPHANET OMIM MENDELIAN

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

Medium match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2I


Autosomal recessive limb-girdle muscular dystrophy type 2I (LGMD2I) is a subtype of autosomal recessive limb-girdle muscular dystrophy that presents a highly variable age of onset and phenotypic spectrum typically characterized by slowly progressive proximal weakness of the pelvic and shoulder girdle musculature (predominantly affecting the lower limbs), frequently associated with waddling gait, scapular winging, calf and tongue hypertrophy, exercise-induced myalgia, and myoglobinuria and/or elevated creatine kinase serum levels. Abdominal muscle weakness, cardiomyopathy, respiratory muscle involvement and various brain abnormalities have also been reported.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2I Is also known as lgmdr9|lgmd2i|muscular dystrophy-dystroglycanopathy, limb-girdle, frkp-related|muscular dystrophy, limb-girdle, autosomal recessive 9|limb-girdle muscular dystrophy due to fkrp deficiency|muscular dystrophy, limb-girdle, type 2i

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Motor delay
  • Respiratory insufficiency


SOURCES: MESH OMIM ORPHANET MENDELIAN

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

Medium match GLYCOGEN STORAGE DISEASE DUE TO ACID MALTASE DEFICIENCY, INFANTILE ONSET


Glycogen storage disease due to acid maltase deficiency, infantile onset is the most severe form of glycogen storage disease due to acid maltase deficiency, characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties. It is often fatal.

GLYCOGEN STORAGE DISEASE DUE TO ACID MALTASE DEFICIENCY, INFANTILE ONSET Is also known as glycogenosis due to acid maltase deficiency, infantile onset|glycogen storage disease type ii, infantile onset|gsd type 2, infantile onset|alpha-1,4-glucosidase acid deficiency, infantile onset|gsd type ii, infantile onset|glycogenosis type ii, infantile

Related symptoms:

  • Global developmental delay
  • Failure to thrive
  • Muscular hypotonia
  • Cognitive impairment
  • Feeding difficulties


SOURCES: ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO ACID MALTASE DEFICIENCY, INFANTILE ONSET

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Other less relevant matches:

Medium match FATAL CONGENITAL HYPERTROPHIC CARDIOMYOPATHY DUE TO GLYCOGEN STORAGE DISEASE


FATAL CONGENITAL HYPERTROPHIC CARDIOMYOPATHY DUE TO GLYCOGEN STORAGE DISEASE Is also known as fatal congenital hypertrophic cardiomyopathy due to glycogenosis|fatal congenital hypertrophic cardiomyopathy due to gsd|phosphorylase kinase deficiency of heart|glycogen storage disease of heart

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Failure to thrive
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about FATAL CONGENITAL HYPERTROPHIC CARDIOMYOPATHY DUE TO GLYCOGEN STORAGE DISEASE

Medium match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2E


Autosomal recessive limb girdle muscular dystrophy type 2E (LGMD2E) is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by a childhood to adolescent onset of progressive pelvic- and shoulder-girdle muscle weakness, particularly affecting the pelvic girdle (adductors and flexors of hip). Usually the knees are the earliest and most affected muscles. In advanced stages, involvement of the shoulder girdle (resulting in scapular winging) and the distal muscle groups are observed. Calf hypertrophy, cardiomyopathy, respiratory impairment, tendon contractures, scoliosis, and exercise-induced myoglobinuria may be observed.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2E Is also known as beta-sarcoglycanopathy|limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency|lgmd2e|muscular dystrophy, limb-girdle, type 2e

Related symptoms:

  • Scoliosis
  • Delayed speech and language development
  • Gait disturbance
  • Dysphagia
  • Respiratory insufficiency


SOURCES: ORPHANET OMIM MENDELIAN

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

Medium match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1; MDDGB1


Congenital muscular dystrophies resulting from defective glycosylation of alpha-dystroglycan (DAG1 ) are characterized by early onset of muscle weakness, usually before ambulation is achieved; mental retardation and mild brain anomalies are variable (Balci et al., 2005; Godfrey et al., 2007). Congenital muscular dystrophy-dystroglycanopathies with or without mental retardation (type B) represent the intermediate range of the spectrum of dystroglycanopathies. They are less severe than muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A; see MDDGA1, {236670}), previously designated Walker-Warburg syndrome (WWS) or muscle-eye-brain disease (MEB), and more severe than limb-girdle muscular dystrophy-dystroglycanopathy (type C; see MDDGC1, {609308}). Genetic Heterogeneity of Congenital Muscular Dystrophy-Dystroglycanopathy with or without Mental Retardation (Type B)Congenital muscular dystrophy with mental retardation due to defective glycosylation of DAG1 is genetically heterogeneous. See also MDDGB2 (OMIM ), caused by mutation in the POMT2 gene (OMIM ); MDDGB3 (OMIM ), caused by mutation in the POMGNT1 gene (OMIM ); MDDGB4 (OMIM ), caused by mutation in the FKTN gene (OMIM ); MDDGB5 (OMIM ), caused by mutation in the FKRP gene (OMIM ); MDDGB6 (OMIM ), caused by mutation in the LARGE gene (OMIM ); and MDDGB14 (OMIM ), caused by mutation in the GMPPB gene (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1; MDDGB1 Is also known as muscular dystrophy, congenital, pomt1-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, 1; MDDGB1

Medium match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2C


Autosomal recessive limb-girdle muscular dystrophy type 2C (LGMD2C) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a childhood onset of progressive shoulder and pelvic girdle muscle weakness and atrophy frequently associated with calf hypertrophy, diaphragmatic weakness, and/or variable cardiac abnormalities. Mild to moderate elevated serum creatine kinase levels and positive Gowers sign are reported.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2C Is also known as severe childhood autosomal recessive muscular dystrophy, north african type|dmda|lgmd2c|muscular dystrophy, limb-girdle, type 2c|limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency|duchenne-like muscular dystrophy, autosomal recessive, type

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Muscle weakness
  • Flexion contracture
  • Skeletal muscle atrophy


SOURCES: OMIM ORPHANET MESH MENDELIAN

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

Medium match HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6; CHNG6


Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6; CHNG6

Medium match LETHAL POLYMALFORMATIVE SYNDROME, BOISSEL TYPE


Lethal polymalformative syndrome, Boissel type is a rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by failure to thrive, severe developmental delay, severe postanatal microcephaly, frequent congenital cardiac defects and characteristic facial dysmorphysm (including coarse face with anteverted nostrils, thin vermillion, prominent alveolar ridge and retro- or micrognatia). Additional common features include neurologic abnormalities (hyper-/hypotonia, sensorineural deafness, hydrocephalus, cerebral atrophy, seizures), as well as brachydactyly, cutis marmorata and genital anomalies.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Growth delay


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about LETHAL POLYMALFORMATIVE SYNDROME, BOISSEL TYPE

Medium match CONGENITAL MUSCULAR DYSTROPHY TYPE 1A


Congenital muscular dystrophy type 1A (MCD1A) belongs to a group of neuromuscular disorders with onset at birth or infancy characterized by hypotonia, muscle weakness and muscle wasting.

CONGENITAL MUSCULAR DYSTROPHY TYPE 1A Is also known as muscular dystrophy, congenital merosin-deficient|cmd1a|merosin-negative congenital muscular dystrophy|mdc1a|congenital muscular dystrophy due to laminin alpha2 deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY TYPE 1A

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Macroglossia

Symptoms // Phenotype % cases
Elevated serum creatine phosphokinase Common - Between 50% and 80% cases
Muscular dystrophy Common - Between 50% and 80% cases
Limb-girdle muscular dystrophy Common - Between 50% and 80% cases
Muscle weakness Uncommon - Between 30% and 50% cases
Respiratory insufficiency Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cardiomyopathy and Macroglossia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Motor delay Scoliosis Generalized hypotonia Intellectual disability Hypertrophic cardiomyopathy Skeletal muscle atrophy Arrhythmia Calf muscle hypertrophy Proximal muscle weakness Waddling gait Seizures Achilles tendon contracture Respiratory distress Flexion contracture Abnormal facial shape Congenital muscular dystrophy Scapular winging Global developmental delay Failure to thrive Cognitive impairment Hyperlordosis Myalgia Facial palsy Inability to walk Dilated cardiomyopathy Congestive heart failure Progressive muscle weakness Dysphagia Dilatation Broad-based gait

Rare Symptoms - Less than 30% cases


Gowers sign Left ventricular hypertrophy Cardiomegaly Myopathy Myoglobinuria Gait disturbance Growth delay Increased variability in muscle fiber diameter Intellectual disability, severe Muscle fiber atrophy Anteverted nares Intellectual disability, moderate Severe global developmental delay Cerebellar hypoplasia Absent speech Hypoplasia of the corpus callosum Myopathic facies Lissencephaly Increased endomysial connective tissue Hip dislocation Protruding tongue Calf muscle pseudohypertrophy Tip-toe gait Microcephaly Congenital hip dislocation Gastroesophageal reflux Diaphragmatic weakness Talipes equinovarus Progressive proximal muscle weakness Increased connective tissue Respiratory failure Kyphoscoliosis Difficulty walking Difficulty climbing stairs Restrictive ventilatory defect Difficulty running Left ventricular failure Restrictive deficit on pulmonary function testing Pelvic girdle muscle weakness Frequent falls Hepatomegaly Muscular hypotonia Aspiration Hydrocephalus Hypertonia Abnormal brainstem MRI signal intensity Long philtrum Hernia Intercostal muscle weakness Obesity Patent ductus arteriosus Ventricular septal defect Retrognathia Coarse facial features Umbilical hernia Wide mouth Abnormality of the temporomandibular joint Thin vermilion border Bifid uvula Delayed myelination Short neck Wide nasal bridge Intrauterine growth retardation Long thorax Wormian bones Coxa vara Hypercholesterolemia Relative macrocephaly Abnormality of the periventricular white matter Absent muscle fiber merosin Congenital hypothyroidism Drowsiness Thyroid hormone receptor defect Ventricular hypertrophy No permanent dentition Increased T3/T4 ratio Hearing impairment Sensorineural hearing impairment Cleft palate Abnormality of visual evoked potentials Cryptorchidism Brachydactyly Dandy-Walker malformation Weak cry Small nail Ophthalmoplegia Astrocytosis Abnormality of metabolism/homeostasis Areflexia Neonatal hypotonia Feeding difficulties in infancy Atelectasis Paralysis Abnormality of the cerebral white matter Polymicrogyria Abnormal cortical gyration Focal-onset seizure Reduced ejection fraction Bradykinesia Pulmonary arterial hypertension Increased body weight Pachygyria Heterotopia Decreased body weight Absence seizures Myositis Sensorimotor neuropathy Poor suck Short chin Hypokinesia Focal impaired awareness seizure Hypointensity of cerebral white matter on MRI Inferior vermis hypoplasia Impaired mastication Hypoventilation Pontocerebellar atrophy Failure to thrive in infancy Ventriculomegaly Diffuse white matter abnormalities Cutis marmorata Respiratory insufficiency due to muscle weakness Cerebral edema Recurrent lower respiratory tract infections Severe failure to thrive Periorbital fullness Skull asymmetry Open mouth Long face Hoarse voice Neonatal hypoglycemia Micrognathia Hypoglycemia Ascites Hypotension Cyanosis Bradycardia Exercise intolerance Heart murmur Enlarged kidney Increased muscle glycogen content Sinus bradycardia Pulmonary edema Biventricular hypertrophy Shortened PR interval Delayed speech and language development Edema Osteoporosis Distal muscle weakness Abnormality of lysosomal metabolism Abnormality of refraction Proximal amyotrophy Vertebral fusion Tetraparesis Reduced systolic function Triangular tongue Kyphosis Falls Muscle cramps Abnormal lung morphology Toe walking Shoulder girdle muscle weakness Bowel incontinence Nocturnal hypoventilation Exercise-induced myoglobinuria Abnormality of the Achilles tendon Thigh hypertrophy Reduced muscle fiber alpha dystroglycan Reduced muscle fiber merosin Feeding difficulties Limb muscle weakness Urinary incontinence Palpitations Limb-girdle muscle weakness Clumsiness Macrocephaly EMG: positive sharp waves EMG: myotonic discharges Absent muscle fiber gamma sarcoglycan Reduced muscle fiber alpha sarcoglycan Short stature Hypertelorism Anemia Depressed nasal bridge Delayed skeletal maturation Abnormal macrophage morphology Constipation Hypothyroidism Skeletal dysplasia Joint laxity Dry skin Flat face Delayed eruption of teeth Limb undergrowth Omphalocele EMG: myotonic runs Left ventricular systolic dysfunction Axial muscle weakness Enlarged cisterna magna Shoulder girdle muscle atrophy Pelvic girdle muscle atrophy Reduced muscle fiber beta sarcoglycan Cataract Myopia Congenital cataract Retinal dystrophy Generalized amyotrophy Cerebellar dysplasia Right ventricular dilatation Pneumonia Unsteady gait Lumbar hyperlordosis EMG: myopathic abnormalities Skeletal muscle hypertrophy Right ventricular hypertrophy Upper limb muscle weakness Neck flexor weakness Muscle fiber necrosis Highly elevated creatine phosphokinase



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