Delayed speech and language development, and Limb-girdle muscular dystrophy

Diseases related with Delayed speech and language development and Limb-girdle muscular dystrophy

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


Top matches:

High match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1; MDDGC1

Limb-girdle muscular dystrophies resulting from defective glycosylation of alpha-dystroglycan (DAG1 ) represent the mildest end of the phenotypic spectrum of muscular dystrophies collectively known as dystroglycanopathies. The limb-girdle phenotype is characterized by onset of muscular weakness apparent after ambulation is achieved; mental retardation and mild brain anomalies are variable (Balci et al., 2005; review by Godfrey et al., 2007). The most severe end of the phenotypic spectrum of dystroglycanopathies is represented by congenital 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 the intermediate range of the spectrum is represented by congenital muscular dystrophy-dystroglycanopathy with or without mental retardation (type B; see MDDGB1, {613155}). Genetic Heterogeneity of Limb-Girdle Muscular Dystrophy-Dystroglycanopathy (Type C)Limb-girdle muscular dystrophy due to defective glycosylation of DAG1 is genetically heterogeneous. See also MDDGC2 (OMIM ), caused by mutation in the POMT2 gene (OMIM ); MDDGC3 (OMIM ), caused by mutation in the POMGNT1 gene (OMIM ); MDDGC4 (OMIM ), caused by mutation in the FKTN gene (OMIM ); MDDGC5 (OMIM ), caused by mutation in the FKRP gene (OMIM ); MDDGC7 (OMIM ), caused by mutation in the ISPD gene (OMIM ); MDDGC9 (OMIM ) caused by mutation in the DAG1 gene (OMIM ); MDDGC12 (OMIM ), caused by mutation in the POMK gene (OMIM ); and MDDGC14 (OMIM ) caused by mutation in the GMPPB gene (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1; MDDGC1 Is also known as muscular dystrophy, limb-girdle, type 2k;lgmd2k;lgmd2k; limb-girdle muscular dystrophy-intellectual disability syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Microcephaly
  • Scoliosis
  • Motor delay


SOURCES: GARD NCIT MONDO EFO UMLS DOID OMIM ORPHANET SCTID

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1; MDDGC1

Medium match MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2S; LGMD2S

LGMD2S is an autosomal recessive disorder characterized by childhood-onset of proximal muscle weakness resulting in gait abnormalities and scapular winging. Serum creatine kinase is increased. A subset of patients may show a hyperkinetic movement disorder with chorea, ataxia, or dystonia and global developmental delay (summary by Bogershausen et al., 2013). Additional more variable features include alacrima, achalasia, cataracts, or hepatic steatosis (Liang et al., 2015; Koehler et al., 2017).For discussion of genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy, see LGMD2A (OMIM ).

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2S; LGMD2S Is also known as ;lgmd2s

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: DOID ORPHANET OMIM MONDO UMLS GARD

More info about MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2S; LGMD2S

Medium match ZEBRA BODY MYOPATHY

) gene may be involved.

Related symptoms:

  • Global developmental delay
  • Elevated serum creatine phosphokinase
  • Facial palsy
  • Proximal muscle weakness
  • Neonatal hypotonia


SOURCES: SCTID ORPHANET MONDO UMLS

More info about ZEBRA BODY MYOPATHY

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Other less relevant matches:

Medium match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5; MDDGC5

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.

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5; MDDGC5 Is also known as muscular dystrophy, limb-girdle, type 2i;lgmd2i, muscular dystrophy-dystroglycanopathy, limb-girdle, frkp-related;lgmd2i; limb-girdle muscular dystrophy due to fkrp deficiency

Related symptoms:

  • Autosomal recessive inheritance
  • Generalized hypotonia
  • Scoliosis
  • Motor delay
  • Muscle weakness


SOURCES: MESH UMLS ORPHANET MONDO SCTID NCIT GARD DOID OMIM

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5; MDDGC5

Medium match CENTRAL CORE DISEASE OF MUSCLE; CCD

Typical central core disease is a relatively mild congenital myopathy, usually characterized by motor developmental delay and signs of mild proximal weakness most pronounced in the hip girdle musculature. Orthopedic complications, particularly congenital dislocation of the hips and scoliosis, are common, and CCD patients are at risk of having malignant hyperthermia (MHS1 ). Onset of CCD is usually in childhood, although adult onset has also been reported, illustrating phenotypic variability (Jungbluth et al., 2009). Some patients can present in utero or at birth with severe congenital myopathy (Bharucha-Goebel et al., 2013).

CENTRAL CORE DISEASE OF MUSCLE; CCD Is also known as cco

Related symptoms:

  • Autosomal recessive inheritance
  • Autosomal dominant inheritance
  • Seizures
  • Generalized hypotonia
  • Pica


SOURCES: NCIT OMIM

More info about CENTRAL CORE DISEASE OF MUSCLE; CCD

Medium match ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1; UCMD1

Ullrich congenital muscular dystrophy is characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints and normal intelligence. Additional findings may include kyphoscoliosis, protruded calcanei, and follicular hyperkeratosis. Some patients manifest at birth and never achieve independent ambulation, whereas others maintain ambulation into adulthood. Progressive scoliosis and deterioration of respiratory function is a typical feature (summary by Kirschner, 2013). Genetic Heterogeneity of Ullrich Congenital Muscular DystrophyUCMD2 (OMIM ) is caused by mutation in the COL12A1 gene (OMIM ) on chromosome 6q.

ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1; UCMD1 Is also known as ullrich congenital muscular dystrophy;ucmd, muscular dystrophy, scleroatonic, ullrich disease, ullrich scleroatonic muscular dystrophy;scleroatonic muscular dystrophy; ucmd; ullrich disease

Related symptoms:

  • Autosomal recessive inheritance
  • Autosomal dominant inheritance
  • Short stature
  • Generalized hypotonia
  • Scoliosis


SOURCES: OMIM SCTID UMLS MONDO ORPHANET

More info about ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1; UCMD1

Medium match MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E; LGMD2E

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.

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E; LGMD2E Is also known as ;beta-sarcoglycanopathy; lgmd2e; limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency

Related symptoms:

  • Autosomal recessive inheritance
  • Milia
  • Myopathy
  • Nevus
  • Delayed speech and language development


SOURCES: MONDO SCTID DOID OMIM UMLS GARD ORPHANET

More info about MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E; LGMD2E

Medium match MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C; LGMD2C

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.

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C; LGMD2C Is also known as muscular dystrophy, duchenne-like, duchenne-like muscular dystrophy, autosomal recessive, type 1;dmda1, dmda, adhalin deficiency, secondary, sarcoglycan, gamma, deficiency of, severe childhood autosomal recessive muscular dystrophy, north african type;scarmd, maghrebian myopathy;gamma-sarcoglycanopathy; lgmd2c; limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Scoliosis
  • Muscle weakness
  • Myopathy


SOURCES: UMLS ORPHANET SCTID DOID MONDO OMIM GARD MESH

More info about MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C; LGMD2C

Medium match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9; MDDGC9

Autosomal recessive limb-girdle muscular dystrophy type 2P (LGMD2P) is a form of limb-girdle muscular dystrophy characterized by slowly-progressive, mainly proximal, muscle weakness presenting in early childhood (with difficulties walking and climbing stairs) and mild to severe intellectual disability. Additional manifestations reported include microcephaly, mild increase in thigh or calf muscles, and contractures of the ankles.

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9; MDDGC9 Is also known as muscular dystrophy, limb-girdle, type 2p;lgmd2p, muscular dystrophy-dystroglycanopathy, limb-girdle, dag1-related;lgmd2p

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Motor delay
  • Muscle weakness


SOURCES: GARD OMIM UMLS ORPHANET MONDO DOID

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9; MDDGC9

Medium match MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD

Dystrophin-associated muscular dystrophies range from the severe Duchenne muscular dystrophy (DMD) to the milder Becker muscular dystrophy (BMD ). Mapping and molecular genetic studies indicate that both are the result of mutations in the huge gene that encodes dystrophin, also symbolized DMD. Approximately two-thirds of the mutations in both forms are deletions of one or many exons in the dystrophin gene. Although there is no clear correlation found between the extent of the deletion and the severity of the disorder, DMD deletions usually result in frameshift. Boland et al. (1996) studied a retrospective cohort of 33 male patients born between 1953 and 1983. The mean age at DMD diagnosis was 4.6 years; wheelchair dependency had a median age of 10 years; cardiac muscle failure developed in 15% of patients with a median age of 21.5 years; smooth muscle dysfunction in the digestive or urinary tract occurred in 21% and 6% of the patients, respectively, at a median age of 15 years. In this cohort, death occurred at a median age of 17 years. The authors commented that the diagnosis of DMD is being made at an earlier age but survival has not changed.

MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD Is also known as duchenne muscular dystrophy, muscular dystrophy, pseudohypertrophic progressive, duchenne type

Related symptoms:

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


SOURCES: OMIM

More info about MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD

Top 5 symptoms//phenotypes associated to Delayed speech and language development and Limb-girdle muscular dystrophy

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

Patients with Delayed speech and language development and Limb-girdle muscular dystrophy. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Waddling gait

Uncommon Symptoms - Between 30% and 50% cases


Proximal muscle weakness

Common Symptoms - More than 50% cases


Scoliosis

Uncommon Symptoms - Between 30% and 50% cases


Gowers sign

Common Symptoms - More than 50% cases


Motor delay

Uncommon Symptoms - Between 30% and 50% cases


Flexion contracture

Common Symptoms - More than 50% cases


Cardiomyopathy

Uncommon Symptoms - Between 30% and 50% cases


Calf muscle hypertrophy Intellectual disability Difficulty climbing stairs Hyperlordosis Generalized hypotonia Respiratory insufficiency Trophic changes related to pain Congenital muscular dystrophy Increased variability in muscle fiber diameter Neonatal hypotonia Facial palsy Difficulty walking Limb-girdle muscle weakness Dilated cardiomyopathy Type 1 muscle fiber predominance Frequent falls Spinal rigidity Global developmental delay Muscle fiber necrosis Pain Feeding difficulties Macroglossia Scapular winging Lumbar hyperlordosis Congestive heart failure EMG: myopathic abnormalities Decreased fetal movement Skeletal muscle atrophy Myalgia Calf muscle pseudohypertrophy Muscle cramps Infantile onset Respiratory failure

Rare Symptoms - Less than 30% cases


Nemaline bodies Increased endomysial connective tissue Torticollis Broad-based gait Arrhythmia Inability to walk Unsteady gait Pelvic girdle muscle weakness Kyphosis Nevus Pneumonia Myopathic facies Congenital hip dislocation Generalized muscle weakness Hip dislocation Talipes equinovarus Cognitive impairment Kyphoscoliosis Milia Autosomal dominant inheritance Nocturnal hypoventilation Diaphragmatic weakness Achilles tendon contracture Difficulty running Restrictive ventilatory defect Intellectual disability, severe Esotropia Seizures Hyporeflexia Slow progression Intrauterine growth retardation Generalized amyotrophy Skeletal muscle hypertrophy Centrally nucleated skeletal muscle fibers Cerebral atrophy Dilatation Fatigue Short stature Thigh hypertrophy Microcephaly Hyperkeratosis Growth delay Dyspnea Adducted thumb Hypoventilation Abnormality of mitochondrial metabolism Mildly elevated creatine phosphokinase Multiple joint contractures Respiratory insufficiency due to muscle weakness Abnormal retinal morphology Abnormality of color vision Slender finger Hypokalemia Exercise intolerance Recurrent lower respiratory tract infections Lissencephaly Tics Abnormal palate morphology Breech presentation Short neck Edema Progressive Hemiatrophy Hyperhidrosis Intestinal pseudo-obstruction Feeding difficulties in infancy Rigidity Joint laxity Knee flexion contracture Protruding ear Round face Scarring Growth hormone deficiency Congenital stationary night blindness Chromosome breakage Male pseudohermaphroditism Elbow flexion contracture Exertional dyspnea Pachygyria Abnormal electroretinogram Follicular hyperkeratosis Failure to thrive Rapidly progressive Upper limb muscle weakness Right ventricular hypertrophy Neck flexor weakness Tip-toe gait Left ventricular systolic dysfunction EMG: myotonic runs Diarrhea Abnormal macrophage morphology Pelvic girdle muscle atrophy Right ventricular dilatation EMG: myotonic discharges EMG: positive sharp waves Intellectual disability, mild Blindness Ankle contracture Tonsillitis Muscular hypotonia Hypertension Long face Shoulder girdle muscle atrophy Progressive muscle weakness Increased laxity of fingers Childhood onset Chest pain Slender build Limb muscle weakness Pes valgus Long toe Abnormality of muscle fibers Impaired mastication Nyctalopia Abnormality of the eye Proximal amyotrophy EEG abnormality Hyperactivity Increased laxity of ankles X-linked recessive inheritance Hyperextensibility at wrists Cirrhosis Juvenile onset Vomiting Myoglobinuria High palate Toe walking Micrognathia Carious teeth Cerebral cortical atrophy Constipation Brachycephaly Elevated hepatic transaminase Attention deficit hyperactivity disorder Congenital cataract Abnormality of the liver Abnormality of movement Hepatic steatosis Renal insufficiency Poor speech Chorea Focal seizures Hip dysplasia Apraxia Athetosis Generalized seizures Lower limb spasticity Truncal ataxia Dystonia Cerebellar atrophy CNS hypomyelination Hypokinesia Ventriculomegaly Respiratory distress Abdominal pain Autistic behavior Cough Ventricular hypertrophy Left ventricular hypertrophy Easy fatigability Abnormal glycosylation Tremor Impaired visuospatial constructive cognition Triceps weakness Ataxia Strabismus Cataract Spasticity Hepatomegaly Dysarthria Myopia Amblyopia Adrenal insufficiency Stooped posture Polyhydramnios Abnormality of the Achilles tendon Exercise-induced myoglobinuria Reduced muscle fiber alpha dystroglycan Reduced muscle fiber merosin Pica Cleft palate Fever Areflexia Pes planus Restrictive deficit on pulmonary function testing Hypertrophic cardiomyopathy Arthrogryposis multiplex congenita Talipes Ophthalmoparesis Malignant hyperthermia Nonprogressive Skeletal myopathy Generalized limb muscle atrophy Minicore myopathy Left ventricular failure Transient ischemic attack Impulsivity Distal muscle weakness Progressive proximal muscle weakness Esophagitis Achalasia Speech apraxia Alacrima Asymmetric growth Recurrent ear infections Exophoria Rimmed vacuoles Shoulder girdle muscle weakness Neck muscle weakness Muscle fiber splitting Axial muscle weakness Autophagic vacuoles Myofibrillar myopathy Handgrip myotonia Falls Abnormal lung morphology Vertebral fusion Gastroparesis


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