Brachydactyly, and Generalized muscle weakness

Diseases related with Brachydactyly and Generalized muscle weakness

In the following list you will find some of the most common rare diseases related to Brachydactyly and Generalized muscle weakness that can help you solving undiagnosed cases.


Top matches:

Medium match CODAS SYNDROME


Codas syndrome is a multiple congenital anomalies syndrome characterized by Cerebral, Ocular, Dental, Auricular and Skeletal anomalies.

CODAS SYNDROME Is also known as cerebral, ocular, dental, auricular, and skeletal anomalies syndrome|cerebrooculodentoauriculoskeletal syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about CODAS SYNDROME

Low match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4; MDDGB4


MDDGB4 is a rare autosomal recessive congenital muscular dystrophy that is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as 'dystroglycanopathies.' In contrast to most dystroglycanopathies, mental retardation is not a feature of MDDGB4 (Godfrey et al., 2007).For a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4; MDDGB4 Is also known as muscular dystrophy, congenital, fktn-related

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Motor delay
  • Elevated serum creatine phosphokinase
  • Muscular dystrophy


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4; MDDGB4

Low match MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL; CMS3A


Slow-channel congenital myasthenic syndrome (SCCMS) is a disorder of the postsynaptic neuromuscular junction (NMJ) characterized by early-onset progressive muscle weakness. The disorder results from kinetic abnormalities of the AChR channel, specifically from prolonged opening and activity of the channel, which causes prolonged synaptic currents resulting in a depolarization block. This is associated with calcium overload, which may contribute to subsequent degeneration of the endplate and postsynaptic membrane. Treatment with quinine, quinidine, or fluoxetine may be helpful; acetylcholinesterase inhibitors and amifampridine should be avoided (summary by Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

Related symptoms:

  • Muscle weakness
  • Ptosis
  • Motor delay
  • Dysphagia
  • Respiratory insufficiency


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL; CMS3A

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Other less relevant matches:

Low match X-LINKED MYOPATHY WITH EXCESSIVE AUTOPHAGY


X-linked myopathy with excessive autophagy is a childhood-onset X-linked myopathy characterised by slow progression of muscle weakness and unique histopathological findings.

X-LINKED MYOPATHY WITH EXCESSIVE AUTOPHAGY Is also known as xmea|vacuolar myopathy

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Muscle weakness
  • Cardiomyopathy
  • Myopathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED MYOPATHY WITH EXCESSIVE AUTOPHAGY

Low match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2Q


Autosomal recessive limb-girdle muscular dystrophy type 2Q (LGMD2Q) is a form of limb-girdle muscular dystrophy characterized by proximal muscle weakness presenting in early childhood (with occasional falls and difficulties in climbing stairs) and a progressive course resulting in loss of ambulation in early adulthood. Muscle atrophy and multiple contractures have also been reported in rare cases.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2Q Is also known as muscular dystrophy, limb-girdle, type 2q|lgmd2q|autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency

Related symptoms:

  • Muscle weakness
  • Flexion contracture
  • Motor delay
  • Skeletal muscle atrophy
  • Elevated serum creatine phosphokinase


SOURCES: OMIM ORPHANET MENDELIAN

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

Low match COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 8


Combined oxidative phosphorylation defect type 8 is a mitochondrial disease due to a defect in mitochondrial protein synthesis resulting in deficiency of respiratory chain complexes I, III and IV in the cardiac and skeletal muscle and brain characterized by severe hypertrophic cardiomyopathy, pulmonary hypoplasia, generalized muscle weakness and neurological involvement.

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 8 Is also known as cardiomyopathy, hypertrophic mitochondrial, fatal infantile|coxpd8

Related symptoms:

  • Failure to thrive
  • Muscle weakness
  • Motor delay
  • Cardiomyopathy
  • Congestive heart failure


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 8

Low match MODERATE MULTIMINICORE DISEASE WITH HAND INVOLVEMENT


Related symptoms:

  • Talipes equinovarus
  • Neonatal hypotonia
  • Facial palsy
  • Joint hyperflexibility
  • Generalized muscle weakness


SOURCES: ORPHANET MENDELIAN

More info about MODERATE MULTIMINICORE DISEASE WITH HAND INVOLVEMENT

Low match SPASTIC PARAPLEGIA-PAGET DISEASE OF BONE SYNDROME


Spastic paraplegia-Paget disease of bone syndrome is an extremely rare, complex form of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with increased muscle tone, decreased strength in the anterior tibial muscles and hyperreflexia in the lower extremities with Babinski sign) presenting in adulthood, associated with Paget disease of the bone. Cognitive decline, dementia and myopathic changes at muscle biopsy have not been reported.

Related symptoms:

  • Gait disturbance
  • Babinski sign
  • Arthralgia
  • Spastic paraplegia
  • Recurrent fractures


SOURCES: ORPHANET MENDELIAN

More info about SPASTIC PARAPLEGIA-PAGET DISEASE OF BONE SYNDROME

Low match MYASTHENIC SYNDROME, CONGENITAL, 16; CMS16


Congenital myasthenic syndrome is a disorder characterized by variable degrees of muscle fatigability caused by impaired transmission of electrical signals at the neuromuscular junction (NMJ) (summary by Arnold et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

MYASTHENIC SYNDROME, CONGENITAL, 16; CMS16 Is also known as myasthenic syndrome, congenital, acetazolamide-responsive

Related symptoms:

  • Muscle weakness
  • Ptosis
  • Cognitive impairment
  • High palate
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 16; CMS16

Low match PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2; PEOA2


Progressive external ophthalmoplegia is characterized by multiple mitochondrial DNA deletions in skeletal muscle. The most common clinical features include adult onset of weakness of the external eye muscles and exercise intolerance. Both autosomal dominant and autosomal recessive inheritance can occur; autosomal recessive inheritance is usually more severe (Filosto et al., 2003; Luoma et al., 2004).PEO caused by mutations in the POLG gene are associated with more complicated phenotypes than those forms caused by mutations in the ANT1 or C10ORF2 genes (Lamantea et al., 2002).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant progressive external ophthalmoplegia, see PEOA1 (OMIM ).

PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2; PEOA2 Is also known as progressive external ophthalmoplegia, autosomal dominant 2

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2; PEOA2

Top 5 symptoms//phenotypes associated to Brachydactyly and Generalized muscle weakness

Symptoms // Phenotype % cases
Muscle weakness Common - Between 50% and 80% cases
Motor delay Uncommon - Between 30% and 50% cases
Ptosis Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Elevated serum creatine phosphokinase Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Brachydactyly and Generalized muscle weakness. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Neonatal hypotonia

Rare Symptoms - Less than 30% cases


Intellectual disability Hyperlordosis Facial palsy Gait disturbance Pneumonia Lumbar hyperlordosis Easy fatigability Joint hyperflexibility Increased serum lactate Cardiomyopathy Hypertrophic cardiomyopathy Ophthalmoplegia Global developmental delay External ophthalmoplegia Hearing impairment Myopathy Muscular dystrophy Sensorineural hearing impairment Failure to thrive Histiocytoid cardiomyopathy Metabolic acidosis Pulmonary hypoplasia Lactic acidosis EEG abnormality Acidosis Congestive heart failure Congenital muscular dystrophy Limb-girdle muscular dystrophy Difficulty climbing stairs Gowers sign Progressive muscle weakness Falls Dysphagia Respiratory insufficiency Proximal muscle weakness Skeletal muscle atrophy Flexion contracture Autophagic vacuoles Inability to walk Poor head control Respiratory insufficiency due to muscle weakness Staring gaze Axial muscle weakness Talipes equinovarus Dementia Increased spinal bone density Cognitive impairment High palate Apnea Paralysis Fatigable weakness Exercise intolerance Limb fasciculations Ragged-red muscle fibers EMG: myopathic abnormalities Goiter Hyperthyroidism Progressive external ophthalmoplegia Cytochrome C oxidase-negative muscle fibers Multiple mitochondrial DNA deletions Abnormality of skeletal morphology Tongue fasciculations Delayed gross motor development Hyporeflexia of upper limbs Difficulty running Type 1 muscle fiber predominance Laryngeal obstruction Knee dislocation Distal upper limb muscle weakness Recurrent patellar dislocation Intrinsic hand muscle atrophy Babinski sign EMG: neuropathic changes Arthralgia Spastic paraplegia Recurrent fractures Spastic gait Bone pain Elevated alkaline phosphatase Lower limb hyperreflexia Absent epiphyses Squared iliac bones Extrahepatic biliary duct atresia Broad forehead Short nose Delayed skeletal maturation Polyhydramnios Conductive hearing impairment Intellectual disability, moderate Abnormality of the pinna Short philtrum Hip dislocation Hypoplasia of the corpus callosum Hypermetropia Congenital cataract Genu valgum Anal atresia Flat face Delayed eruption of teeth Short metacarpal Atrial septal defect Anteverted nares Microdontia Cataract Short stature Microcephaly Scoliosis Nystagmus Strabismus Abnormal facial shape Muscular hypotonia Cryptorchidism Ventriculomegaly Low-set ears Delayed speech and language development Depressed nasal bridge Hypertension Epicanthus Abnormality of the skeletal system Ventricular septal defect Hip dysplasia Abnormal form of the vertebral bodies Crumpled ear Delayed ossification of carpal bones Hypoplasia of the odontoid process Delayed epiphyseal ossification Rectovaginal fistula Abnormality of the larynx Complete atrioventricular canal defect Coronal cleft vertebrae Thin eyebrow Pes valgus Short humerus Vocal cord paresis Midline defect of the nose Lumbar scoliosis Hemiatrophy Seizures Hypoplastic helices Broad skull Prominent metopic ridge Metaphyseal dysplasia Omphalocele Short long bone Hypoplasia of dental enamel Abnormality of epiphysis morphology Short phalanx of finger Congenital hip dislocation Abnormality of dental enamel Short chin Drooling CNS hypomyelination Atrioventricular canal defect Abnormality of pelvic girdle bone morphology Bilateral ptosis Epiphyseal dysplasia Overfolded helix Proximal placement of thumb Abnormality of dental morphology Spondyloepiphyseal dysplasia Hydroureter Subsarcolemmal accumulations of abnormally shaped mitochondria



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Lymphoma and Squamous cell carcinoma, related diseases and genetic alterations Depressed nasal bridge and Gait ataxia, related diseases and genetic alterations High palate and Short distal phalanx of finger, related diseases and genetic alterations Cardiomyopathy and Neutropenia, related diseases and genetic alterations Scoliosis and Clinodactyly of the 5th finger, related diseases and genetic alterations Leukemia and Elevated serum creatine phosphokinase, related diseases and genetic alterations

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