Skeletal muscle atrophy, and Congenital muscular dystrophy

Diseases related with Skeletal muscle atrophy and Congenital muscular dystrophy

In the following list you will find some of the most common rare diseases related to Skeletal muscle atrophy and Congenital muscular dystrophy that can help you solving undiagnosed cases.


Top matches:

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


Autosomal recessive limb-girdle muscular dystrophy type 2B (LGMD2B) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by an onset in late adolescence or early adulthood of slowly progressive, proximal weakness and atrophy of shoulder and pelvic girdle muscles. Cardiac and respiratory muscles are not involved. Hypertrophy of the calf muscles and highly elevated serum creatine kinase levels are frequently observed.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2B Is also known as lgmd2b|limb-girdle muscular dystrophy due to dysferlin deficiency|muscular dystrophy, limb-girdle, type 3|lgmd3|muscular dystrophy, limb-girdle, type 2b

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • Skeletal muscle atrophy
  • Fatigue
  • Abnormality of the skeletal system


SOURCES: MESH OMIM ORPHANET MENDELIAN

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

Medium match EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL DOMINANT; EDMD4


EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL DOMINANT; EDMD4 Is also known as emery-dreifuss muscular dystrophy 4 with variable features

Related symptoms:

  • Generalized hypotonia
  • Flexion contracture
  • Motor delay
  • Talipes equinovarus
  • Elevated serum creatine phosphokinase


SOURCES: MESH OMIM MENDELIAN

More info about EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL DOMINANT; EDMD4

Medium match CONGENITAL MUSCULAR DYSTROPHY WITH INTEGRIN ALPHA-7 DEFICIENCY


Congenital muscular dystrophy with integrin alpha-7 deficiency is a rare, genetic, congenital muscular dystrophy due to extracellular matrix protein anomaly characterized by early motor development delay and muscle weakness with mild elevation of serum creatine kinase, that may be followed by progressive disease course with predominantly proximal muscle weakness and atrophy, motor development regress, scoliosis and respiratory insufficiency.

CONGENITAL MUSCULAR DYSTROPHY WITH INTEGRIN ALPHA-7 DEFICIENCY Is also known as congenital muscular dystrophy with itga7 deficiency|myopathy, congenital, due to integrin alpha-7 deficiency

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Cognitive impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY WITH INTEGRIN ALPHA-7 DEFICIENCY

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

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


Autosomal recessive limb-girdle muscular dystrophy type 2H (LGMD2H) is a mild subtype of autosomal recessive limb girdle muscular dystrophy characterized by slowly progressive proximal muscle weakness and wasting of the pelvic and shoulder girdles with onset that usually occurs during the second or third decade of life. Clinical presentation is variable and can include calf psuedohypertrophy, joint contractures, scapular winging, muscle cramping and/or facial and respiratory muscle involvement.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2H Is also known as sarcotubular myopathy|lgmd2h|muscular dystrophy, hutterite type|limb-girdle muscular dystrophy due to trim32 deficiency|muscular dystrophy, limb-girdle, type 2h

Related symptoms:

  • Muscle weakness
  • Pain
  • Gait disturbance
  • Myopathy
  • Areflexia


SOURCES: OMIM ORPHANET MESH MENDELIAN

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

Medium match CONGENITAL MUSCULAR DYSTROPHY DUE TO LMNA MUTATION


Congenital muscular dystrophy due to LMNA mutation is a rare congenital muscular dystrophy characterized by prominent axial hypotonia, dropped head syndrome, predominantly proximal muscle weakness in upper limbs/distal in lower limbs (with absent, poor or lost motor development), joint contractures (initially distal, later proximal), spine rigidity, and early respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have been also reported.

CONGENITAL MUSCULAR DYSTROPHY DUE TO LMNA MUTATION Is also known as mdcl|lmna-related congenital muscular dystrophy|l-cmd

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Failure to thrive
  • Muscle weakness


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY DUE TO LMNA MUTATION

Medium match CONGENITAL MUSCULAR DYSTROPHY WITHOUT INTELLECTUAL DISABILITY


Congenital muscular dystrophy without intellectual disability is a rare, genetic, congenital muscular dystrophy due to dystroglycanopathy disorder characterized by a wide phenotypic spectrum which includes hypotonia and muscular weakness present at birth or early infancy, delayed or arrested motor development, and normal intellectual abilities with normal (or only mild abnormalities) neuroimaging studies. Feeding difficulties, joint and spinal deformities, and respiratory insufficiency may be associated. Decreased alpha-dystroglycan on immunohistochemical muscle staining and elevated serum creatine kinase are observed.

CONGENITAL MUSCULAR DYSTROPHY WITHOUT INTELLECTUAL DISABILITY Is also known as cmd without intellectual disability|cmd-no mr|congenital muscular dystrophy-dystroglycanopathy without intellectual disability

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Microcephaly
  • Motor delay
  • Ventriculomegaly


SOURCES: ORPHANET MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY WITHOUT INTELLECTUAL DISABILITY

Medium match MEGACONIAL CONGENITAL MUSCULAR DYSTROPHY


Megaconial-type congenital muscular dystrophy is an autosomal recessive disorder characterized by early-onset muscle wasting and mental retardation. Some patients develop fatal cardiomyopathy. Muscle biopsy shows peculiar enlarged mitochondria that are prevalent toward the periphery of the fibers but are sparse in the center (summary by Mitsuhashi et al., 2011).

MEGACONIAL CONGENITAL MUSCULAR DYSTROPHY Is also known as muscular dystrophy, congenital, with mitochondrial structural abnormalities|congenital megaconial myopathy|congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect|congenital muscular dystrophy with mitochondrial structural abnormaliti

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MEGACONIAL CONGENITAL MUSCULAR DYSTROPHY

Medium match CLASSIC MULTIMINICORE MYOPATHY


CLASSIC MULTIMINICORE MYOPATHY Is also known as classic multiminicore disease|classic mmd

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Failure to thrive
  • High palate


SOURCES: ORPHANET MENDELIAN

More info about CLASSIC MULTIMINICORE MYOPATHY

Medium match MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY; MDCCAID


MDCCAID is an autosomal recessive form of muscular dystrophy with onset of progressive muscle weakness in early childhood. Almost all patients also have early-onset cataracts, most have intellectual disability of varying severity, and some have seizures (summary by Wiessner et al., 2017 and Osborn et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY; MDCCAID

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


Autosomal recessive limb-girdle muscular dystrophy type 2K (LGMD2K) is a form of limb-girdle muscular dystrophy characterized by the onset of slowly progressive proximal muscle weakness during childhood (with fatigue and difficulty running and climbing stairs) and developmental delay. Mild intellectual deficit and microcephaly, without any obvious structural brain abnormality, are found in all patients. Mild pseudohypertrophy and joint contractures of the ankles have also been reported.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2K Is also known as muscular dystrophy, limb-girdle, type 2k|muscular dystrophy, limb-girdle, autosomal recessive 11|lgmd2k|limb-girdle muscular dystrophy-intellectual disability syndrome|lgmdr11

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Scoliosis
  • Muscle weakness
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

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

Top 5 symptoms//phenotypes associated to Skeletal muscle atrophy and Congenital muscular dystrophy

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Elevated serum creatine phosphokinase Common - Between 50% and 80% cases
Muscular dystrophy Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Motor delay Common - Between 50% and 80% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Skeletal muscle atrophy and Congenital muscular dystrophy. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Myopathy

Uncommon Symptoms - Between 30% and 50% cases


Proximal muscle weakness Intellectual disability Gowers sign Increased variability in muscle fiber diameter Waddling gait Neonatal hypotonia Scoliosis Flexion contracture Spinal rigidity Microcephaly Difficulty walking EMG: myopathic abnormalities Hyporeflexia Myalgia Global developmental delay Gait disturbance Generalized amyotrophy Calf muscle hypertrophy Infantile muscular hypotonia

Rare Symptoms - Less than 30% cases


Poor head control Limb-girdle muscle weakness Axial muscle weakness Seizures Mildly elevated creatine phosphokinase Facial palsy EMG abnormality Cardiomyopathy Toe walking Short stature Centrally nucleated skeletal muscle fibers Failure to thrive Congestive heart failure Hyperlordosis Frequent falls Mitral valve prolapse Respiratory insufficiency Delayed speech and language development Fatty replacement of skeletal muscle Progressive muscle weakness Limb-girdle muscular dystrophy Difficulty climbing stairs Proximal amyotrophy Limb muscle weakness Neck muscle weakness Increased connective tissue Cognitive impairment Decreased fetal movement Dyspnea Talipes equinovarus Respiratory insufficiency due to muscle weakness Pes planus Hypokinesia Skeletal muscle hypertrophy Type 1 muscle fiber predominance Hip dysplasia Mandibular prognathia Difficulty standing High palate Mitochondrial depletion Delayed gross motor development Abnormal glycosylation Falls Ichthyosis Hypoglycosylation of alpha-dystroglycan Impaired visuospatial constructive cognition Poor speech Dilated cardiomyopathy Attention deficit hyperactivity disorder Hyperactivity Intellectual disability, mild Triceps weakness Microretrognathia Easy fatigability Multiple joint contractures Cataract Dilatation Autistic behavior Cough Respiratory distress Increased adipose tissue Lumbar hyperlordosis Lower limb spasticity Abnormal pyramidal sign Ventricular hypertrophy Rigidity Hyperreflexia Spasticity Strabismus High pitched voice Absent muscle fiber merosin Intermittent episodes of respiratory insufficiency due to muscle weakness Weakness of facial musculature Limited neck flexion Increased muscle lipid content Nocturnal hypoventilation Right ventricular failure Muscle fiber atrophy Left ventricular hypertrophy Restrictive deficit on pulmonary function testing Abdominal pain Right ventricular hypertrophy Spastic gait Myocardial infarction Atrial septal defect Torticollis Neck flexor weakness Exercise-induced myalgia Shoulder girdle muscle weakness Progressive proximal muscle weakness Mask-like facies Keratitis Scapular winging Tall stature Paresthesia Areflexia Pain Congenital hip dislocation Proximal muscle weakness in lower limbs Left ventricular septal hypertrophy Limb joint contracture Bilateral talipes equinovarus Arthrogryposis multiplex congenita Muscle fiber splitting Distal lower limb muscle weakness Difficulty running Lower limb muscle weakness Paralysis Abnormality of the skeletal system Fatigue Pelvic girdle muscle weakness Shoulder girdle muscle atrophy Reduced muscle fiber alpha dystroglycan Ventriculomegaly Limb-girdle muscle atrophy Cerebellar cyst Achilles tendon contracture Facial diplegia Pachygyria Heterotopia Generalized muscle weakness Muscle cramps Abnormality of the cerebral white matter Kyphoscoliosis Cerebellar atrophy Cachexia Calf muscle pseudohypertrophy Severe muscular hypotonia Limitation of joint mobility Talipes Joint hyperflexibility Abnormality of the foot Narrow chest Arrhythmia Feeding difficulties Muscular hypotonia Growth delay Quadriceps muscle weakness Pelvic girdle muscle atrophy Thigh hypertrophy



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Dilated cardiomyopathy, related diseases and genetic alterations Edema and Joint hyperflexibility, related diseases and genetic alterations Edema and Inflammatory abnormality of the skin, related diseases and genetic alterations High palate and Dental crowding, related diseases and genetic alterations Muscle weakness and Hydronephrosis, related diseases and genetic alterations Cataract and Hypermetropia, related diseases and genetic alterations Cataract and Ectodermal dysplasia, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more