Muscle weakness, and Talipes equinovarus

Diseases related with Muscle weakness and Talipes equinovarus

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

Top matches:

Related symptoms:

  • Spasticity
  • Cognitive impairment
  • Hyperreflexia
  • Talipes equinovarus
  • Babinski sign


SOURCES: MESH OMIM MENDELIAN

More info about SPASTIC PARAPLEGIA 33, AUTOSOMAL DOMINANT; SPG33

Charcot-Marie-Tooth disease type 4B1 (CMT4B1) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by an early childhood-onset of severe, demyelinating sensorimotor neuropathy, various degrees of complex myelin outfoldings seen on peripheral nerve biopsy, very slow, and often undetectable, nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Other reported features include facial weakness, vocal cord paresis, respiratory difficulties, and skeletal deformities (e.g. chest deformities, claw hands, pes equinovarus).

CHARCOT-MARIE-TOOTH DISEASE TYPE 4B1 Is also known as cmt4b1|charcot-marie-tooth neuropathy, type 4b1|charcot-marie-tooth disease, type 4b|charcot-marie-tooth disease, autosomal recessive, with focally folded myelin sheaths, autosomal recessive, type 4b1|cmt4b

Related symptoms:

  • Scoliosis
  • Motor delay
  • Peripheral neuropathy
  • Talipes equinovarus
  • Proximal muscle weakness


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE TYPE 4B1

NEUROGENIC SCAPULOPERONEAL SYNDROME, KAESER TYPE Is also known as scapuloperoneal syndrome, neurogenic type, of kaeser|stark-kaeser syndrome|kaeser syndrome

Related symptoms:

  • Skeletal muscle atrophy
  • Dysphagia
  • Talipes equinovarus
  • Facial palsy
  • Muscular dystrophy


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about NEUROGENIC SCAPULOPERONEAL SYNDROME, KAESER TYPE

Other less relevant matches:

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

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

Charcot-Marie-Tooth disease type 4H is a subtype of Charcot-Marie-Tooth disease type 4 characterized by onset before two years of age of severe, slowly progressive, demyelinating sensorimotor neuropathy manifesting with delayed motor development (walking), unsteady gait, distal muscle weakness and atrophy (more prominent in the lower limbs), areflexia, mild symmetrical stocking-distribution hypoesthesia, and skeletal malformations (incl. kyphoscoliosis, short neck, pes cavus and pes equinus). Severely reduced nerve conduction velocities are associated.

CHARCOT-MARIE-TOOTH DISEASE TYPE 4H Is also known as cmt4h|charcot-marie-tooth disease, autosomal recessive, type 4h|charcot-marie-tooth disease, demyelinating, autosomal recessive, type 4h|charcot-marie-tooth neuropathy, type 4h

Related symptoms:

  • Scoliosis
  • Muscle weakness
  • Motor delay
  • Peripheral neuropathy
  • Talipes equinovarus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE TYPE 4H

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

Progressive polyneuropathy with bilateral striatal necrosis is a rare, genetic disorder of thiamine metabolism and transport characterized by the childhood-onset of recurrent episodes of flaccid paralysis and encephalopathy, associated with bilateral striatal necrosis and chronic progressive axonal polyneuropathy with proximal and distal muscle weakness, areflexia, contractures and foot deformities.

PROGRESSIVE POLYNEUROPATHY WITH BILATERAL STRIATAL NECROSIS Is also known as striatal necrosis, bilateral, and progressive polyneuropathy|bilateral striatal degeneration and progressive polyneuropathy

Related symptoms:

  • Muscle weakness
  • Flexion contracture
  • Peripheral neuropathy
  • Dysarthria
  • Skeletal muscle atrophy


SOURCES: OMIM ORPHANET MENDELIAN

More info about PROGRESSIVE POLYNEUROPATHY WITH BILATERAL STRIATAL NECROSIS

Autosomal recessive intermediate Charcot-Marie-Tooth disease type A is a subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by severe, early childhood-onset CMT neuropathy with prominent pes equinovarus deformity and impairment of hand muscles. Nerve conduction velocities usually range between 25-35 m/s and both axonal and demyelinating changes are observed on peripheral nerve pathology.

AUTOSOMAL RECESSIVE INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE A Is also known as charcot-marie-tooth neuropathy, recessive intermediate a|ri-cmta|ri-cmt type a

Related symptoms:

  • Scoliosis
  • Muscle weakness
  • Flexion contracture
  • Peripheral neuropathy
  • Skeletal muscle atrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE A

Central core disease (CCD) is an inherited neuromuscular disorder characterised by central cores on muscle biopsy and clinical features of a congenital myopathy.

Related symptoms:

  • Muscular hypotonia
  • Motor delay
  • Talipes equinovarus
  • Myopathy
  • Elevated serum creatine phosphokinase


SOURCES: ORPHANET MENDELIAN

More info about CENTRAL CORE DISEASE

Top 5 symptoms//phenotypes associated to Muscle weakness and Talipes equinovarus

Symptoms // Phenotype % cases
Motor delay Uncommon - Between 30% and 50% cases
Skeletal muscle atrophy Uncommon - Between 30% and 50% cases
Peripheral neuropathy Uncommon - Between 30% and 50% cases
Hyporeflexia Uncommon - Between 30% and 50% cases
Flexion contracture Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Muscle weakness and Talipes equinovarus. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Elevated serum creatine phosphokinase Muscular dystrophy Distal sensory impairment Distal muscle weakness Facial palsy Proximal muscle weakness Areflexia Scoliosis

Rare Symptoms - Less than 30% cases

Paraplegia Peripheral axonal neuropathy Limb joint contracture Type 1 muscle fiber predominance Foot dorsiflexor weakness Polyneuropathy Pes cavus Abnormality of the foot Peripheral demyelination Upper limb muscle weakness Decreased motor nerve conduction velocity Steppage gait Decreased number of peripheral myelinated nerve fibers Distal amyotrophy Onion bulb formation Intrinsic hand muscle atrophy Difficulty walking Encephalopathy Nemaline bodies Dysarthria Hyporeflexia of upper limbs Knee dislocation Recurrent patellar dislocation Distal upper limb muscle weakness Delayed gross motor development Axial muscle weakness Paralysis Generalized muscle weakness Difficulty running Bulbar signs Falls Lethargy Decreased number of large peripheral myelinated nerve fibers Congenital hip dislocation Respiratory insufficiency due to muscle weakness Easy fatigability Joint laxity Pes planus Myopathy Malignant hyperthermia Muscular hypotonia Ulnar claw Achilles tendon contracture Muscle stiffness EMG: neuropathic changes Axonal degeneration Sensory impairment Neonatal hypotonia Inability to walk Fetal akinesia sequence Limb muscle weakness Contractures of the joints of the lower limbs Increased CSF lactate Frequent falls Joint hyperflexibility Spasticity Small hypothenar eminence Irregular myelin loops Cardiomyopathy Scapuloperoneal weakness Scapuloperoneal amyotrophy Peroneal muscle atrophy Shoulder girdle muscle atrophy Gynecomastia Talipes Dysphagia Abnormal auditory evoked potentials Macroglossia Sensory neuropathy Ankle clonus Clonus Spastic gait Lower limb spasticity Lower limb muscle weakness Spastic paraplegia Babinski sign Hyperreflexia Dilated cardiomyopathy Tetraparesis Distal lower limb muscle weakness Bilateral talipes equinovarus Distal lower limb amyotrophy CNS hypomyelination Waddling gait Unsteady gait Cognitive impairment Left ventricular septal hypertrophy Proximal amyotrophy Neck muscle weakness Congenital muscular dystrophy Progressive muscle weakness Decreased fetal movement Arthrogryposis multiplex congenita Generalized hypotonia Triangular tongue Reduced systolic function Increased connective tissue Progressive proximal muscle weakness Calf muscle hypertrophy Limb-girdle muscular dystrophy Pelvic girdle muscle weakness


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